Canonical Allele Identifier: CA1298151614

Linked Data

dbSNP Id: rs2061098464

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151497590_151497594del , CM000664.2:g.151497590_151497594del GRCh38
NC_000002.11:g.152354104_152354108del , CM000664.1:g.152354104_152354108del GRCh37
NC_000002.10:g.152062350_152062354del NCBI36
NG_009382.2:g.241896_241900del , LRG_202:g.241896_241900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000434685.6:c.3075-5098_3075-5094del (NEB)
ENST00000688578.1:c.900-559_900-555del (NEB)
ENST00000690043.1:c.6378-3339_6378-3335del (NEB)
ENST00000693000.1:n.2657-5098_2657-5094del (NEB)
ENST00000397345.8:c.24300+34_24300+38del (NEB) MANE Select ENSP00000380505.3:n.24300+34_24300+38del
ENST00000427231.7:c.24300+34_24300+38del (NEB) MANE Plus Clinical ENSP00000416578.2:n.24300+34_24300+38del
ENST00000172853.14:c.18826-1224_18826-1220del (NEB) ENSP00000172853.10:n.18826-1224_18826-1220del
ENST00000397337.6:c.701+34_701+38del (NEB)
ENST00000397345.7:c.24300+34_24300+38del (NEB) ENSP00000380505.3:n.24300+34_24300+38del
ENST00000409198.5:c.18826-1224_18826-1220del (NEB) ENSP00000386259.1:n.18826-1224_18826-1220del
ENST00000413693.5:c.8026-1224_8026-1220del (NEB) ENSP00000410961.1:n.8026-1224_8026-1220del
ENST00000421461.6:c.736+34_736+38del (NEB)
ENST00000424585.1:c.610-559_610-555del (NEB) ENSP00000404876.1:n.610-559_610-555del
ENST00000427231.6:c.24300+34_24300+38del (NEB) ENSP00000416578.2:n.24300+34_24300+38del
ENST00000434685.5:c.1395-3339_1395-3335del (NEB)
ENST00000454583.6:c.2754-1755_2754-1751del (RIF1)
ENST00000457745.1:n.579-196_579-192del (RIF1)
ENST00000484077.1:n.353-196_353-192del (RIF1)
ENST00000498015.2:n.226-5098_226-5094del (NEB)
ENST00000603639.5:c.24300+34_24300+38del (NEB) ENSP00000473894.1:n.24300+34_24300+38del
ENST00000604864.5:c.24300+34_24300+38del (NEB) ENSP00000474498.1:n.24300+34_24300+38del
ENST00000618972.4:c.24405+34_24405+38del (NEB) ENSP00000484342.1:n.24405+34_24405+38del
NM_001164507.1:c.24300+34_24300+38del (NEB) NP_001157979.1:n.24300+34_24300+38del
NM_001164508.1:c.24300+34_24300+38del (NEB) NP_001157980.1:n.24300+34_24300+38del
NM_001271208.1:c.24405+34_24405+38del , LRG_202t1:c.24405+34_24405+38del (NEB) NP_001258137.1:n.24405+34_24405+38del
NM_004543.4:c.18826-1224_18826-1220del (NEB) NP_004534.2:n.18826-1224_18826-1220del
XM_005246590.1:c.24207+34_24207+38del (NEB) XP_005246647.1:n.24207+34_24207+38del
XM_005246591.1:c.24207+34_24207+38del (NEB) XP_005246648.1:n.24207+34_24207+38del
XM_005246592.1:c.24300+34_24300+38del (NEB) XP_005246649.1:n.24300+34_24300+38del
XM_005246593.1:c.24300+34_24300+38del (NEB) XP_005246650.1:n.24300+34_24300+38del
XM_005246594.1:c.24207+34_24207+38del (NEB) XP_005246651.1:n.24207+34_24207+38del
XM_005246595.1:c.24207+34_24207+38del (NEB) XP_005246652.1:n.24207+34_24207+38del
XM_005246596.1:c.24114+34_24114+38del (NEB) XP_005246653.1:n.24114+34_24114+38del
XM_005246597.1:c.24300+34_24300+38del (NEB) XP_005246654.1:n.24300+34_24300+38del
XM_005246598.1:c.24300+34_24300+38del (NEB) XP_005246655.1:n.24300+34_24300+38del
XM_005246599.1:c.24021+34_24021+38del (NEB) XP_005246656.1:n.24021+34_24021+38del
XM_005246600.1:c.24021+34_24021+38del (NEB) XP_005246657.1:n.24021+34_24021+38del
XM_005246601.1:c.23929-559_23929-555del (NEB) XP_005246658.1:n.23929-559_23929-555del
XM_005246602.1:c.23928+34_23928+38del (NEB) XP_005246659.1:n.23928+34_23928+38del
XM_005246603.1:c.23929-1224_23929-1220del (NEB) XP_005246660.1:n.23929-1224_23929-1220del
XM_005246604.1:c.23929-559_23929-555del (NEB) XP_005246661.1:n.23929-559_23929-555del
XM_005246606.1:c.23928+34_23928+38del (NEB) XP_005246663.1:n.23928+34_23928+38del
XM_005246608.1:c.23929-3339_23929-3335del (NEB) XP_005246665.1:n.23929-3339_23929-3335del
XM_005246610.1:c.23836-3339_23836-3335del (NEB) XP_005246667.1:n.23836-3339_23836-3335del
XM_005246611.1:c.24021+3799_24021+3803del (NEB) XP_005246668.1:n.24021+3799_24021+3803del
XM_005246612.1:c.23571+34_23571+38del (NEB) XP_005246669.1:n.23571+34_23571+38del
XM_005246613.1:c.23571+34_23571+38del (NEB) XP_005246670.1:n.23571+34_23571+38del
XM_005246615.1:c.23928+34_23928+38del (NEB) XP_005246672.1:n.23928+34_23928+38del
XM_005246616.1:c.*632_*636del (NEB) XP_005246673.1:n.*632_*636del
XM_005246617.1:c.21384+34_21384+38del (NEB) XP_005246674.1:n.21384+34_21384+38del
XM_006712541.1:c.23929-1224_23929-1220del (NEB) XP_006712604.1:n.23929-1224_23929-1220del
XM_006712542.1:c.24021+34_24021+38del (NEB) XP_006712605.1:n.24021+34_24021+38del
XM_011511224.1:c.24207+34_24207+38del (NEB) XP_011509526.1:n.24207+34_24207+38del
XM_011511225.1:c.23743-3339_23743-3335del (NEB) XP_011509527.1:n.23743-3339_23743-3335del
XM_011511226.1:c.22113+34_22113+38del (NEB) XP_011509528.1:n.22113+34_22113+38del
XM_011511227.1:c.19926+34_19926+38del (NEB) XP_011509529.1:n.19926+34_19926+38del
XR_922955.1:n.7838+14255_7838+14259del (RIF1)
XR_922956.1:n.7937-196_7937-192del (RIF1)
XR_922957.1:n.7839-196_7839-192del (RIF1)
XM_005246590.2:c.24207+34_24207+38del (NEB) XP_005246647.1:n.24207+34_24207+38del
XM_005246591.2:c.24207+34_24207+38del (NEB) XP_005246648.1:n.24207+34_24207+38del
XM_005246592.2:c.24300+34_24300+38del (NEB) XP_005246649.1:n.24300+34_24300+38del
XM_005246593.2:c.24300+34_24300+38del (NEB) XP_005246650.1:n.24300+34_24300+38del
XM_005246594.2:c.24207+34_24207+38del (NEB) XP_005246651.1:n.24207+34_24207+38del
XM_005246596.2:c.24114+34_24114+38del (NEB) XP_005246653.1:n.24114+34_24114+38del
XM_005246597.2:c.24300+34_24300+38del (NEB) XP_005246654.1:n.24300+34_24300+38del
XM_005246598.2:c.24300+34_24300+38del (NEB) XP_005246655.1:n.24300+34_24300+38del
XM_005246599.2:c.24021+34_24021+38del (NEB) XP_005246656.1:n.24021+34_24021+38del
XM_005246601.2:c.23929-559_23929-555del (NEB) XP_005246658.1:n.23929-559_23929-555del
XM_005246602.2:c.23928+34_23928+38del (NEB) XP_005246659.1:n.23928+34_23928+38del
XM_005246603.2:c.23929-1224_23929-1220del (NEB) XP_005246660.1:n.23929-1224_23929-1220del
XM_005246604.2:c.23929-559_23929-555del (NEB) XP_005246661.1:n.23929-559_23929-555del
XM_005246606.2:c.23928+34_23928+38del (NEB) XP_005246663.1:n.23928+34_23928+38del
XM_005246608.2:c.23929-3339_23929-3335del (NEB) XP_005246665.1:n.23929-3339_23929-3335del
XM_005246610.2:c.23836-3339_23836-3335del (NEB) XP_005246667.1:n.23836-3339_23836-3335del
XM_005246611.2:c.24021+3799_24021+3803del (NEB) XP_005246668.1:n.24021+3799_24021+3803del
XM_005246612.2:c.23571+34_23571+38del (NEB) XP_005246669.1:n.23571+34_23571+38del
XM_005246613.2:c.23571+34_23571+38del (NEB) XP_005246670.1:n.23571+34_23571+38del
XM_005246615.2:c.23928+34_23928+38del (NEB) XP_005246672.1:n.23928+34_23928+38del
XM_005246617.2:c.21384+34_21384+38del (NEB) XP_005246674.1:n.21384+34_21384+38del
XM_006712541.2:c.23929-1224_23929-1220del (NEB) XP_006712604.1:n.23929-1224_23929-1220del
XM_006712542.2:c.24021+34_24021+38del (NEB) XP_006712605.1:n.24021+34_24021+38del
XM_011511225.2:c.23743-3339_23743-3335del (NEB) XP_011509527.1:n.23743-3339_23743-3335del
XM_011511226.2:c.22113+34_22113+38del (NEB) XP_011509528.1:n.22113+34_22113+38del
XM_011511227.2:c.19926+34_19926+38del (NEB) XP_011509529.1:n.19926+34_19926+38del
XM_017004177.1:c.24189+34_24189+38del (NEB) XP_016859666.1:n.24189+34_24189+38del
XM_017004178.1:c.24114+34_24114+38del (NEB) XP_016859667.1:n.24114+34_24114+38del
XM_017004179.1:c.23836-559_23836-555del (NEB) XP_016859668.1:n.23836-559_23836-555del
XM_017004180.1:c.23835+34_23835+38del (NEB) XP_016859669.1:n.23835+34_23835+38del
XM_017004181.1:c.23836-1224_23836-1220del (NEB) XP_016859670.1:n.23836-1224_23836-1220del
XM_017004182.1:c.23836-1224_23836-1220del (NEB) XP_016859671.1:n.23836-1224_23836-1220del
XM_017004183.1:c.23836-3339_23836-3335del (NEB) XP_016859672.1:n.23836-3339_23836-3335del
XM_017004184.1:c.23836-1224_23836-1220del (NEB) XP_016859673.1:n.23836-1224_23836-1220del
XM_017004185.1:c.23743-5098_23743-5094del (NEB) XP_016859674.1:n.23743-5098_23743-5094del
XR_001738811.2:n.8312-196_8312-192del (RIF1)
XR_001738812.2:n.8312-1815_8312-1811del (RIF1)
XR_001738813.2:n.8214-196_8214-192del (RIF1)
XR_001738814.2:n.8214-1815_8214-1811del (RIF1)
XR_001738815.2:n.8214-5444_8214-5440del (RIF1)
XR_001738816.2:n.8214-8620_8214-8616del (RIF1)
XR_001738817.2:n.8213+14255_8213+14259del (RIF1)
NM_001271208.2:c.24405+34_24405+38del (NEB) NP_001258137.2:n.24405+34_24405+38del
NM_004543.5:c.18826-1224_18826-1220del (NEB) NP_004534.3:n.18826-1224_18826-1220del
NM_001164507.2:c.24300+34_24300+38del (NEB) MANE Plus Clinical NP_001157979.2:n.24300+34_24300+38del
NM_001164508.2:c.24300+34_24300+38del (NEB) MANE Select NP_001157980.2:n.24300+34_24300+38del