Canonical Allele Identifier: CA16617239

Linked Data

ClinVar Variation Id: 422612
ClinVar RCV Id: RCV000484357
dbSNP Id: rs1064795894

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151497713_151497714insTT , CM000664.2:g.151497713_151497714insTT GRCh38
NC_000002.11:g.152354227_152354228insTT , CM000664.1:g.152354227_152354228insTT GRCh37
NC_000002.10:g.152062473_152062474insTT NCBI36
NG_009382.2:g.241775_241776insAA , LRG_202:g.241775_241776insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000434685.6:c.3075-5219_3075-5218insAA (NEB)
ENST00000688578.1:c.900-680_900-679insAA (NEB)
ENST00000690043.1:c.6378-3460_6378-3459insAA (NEB)
ENST00000693000.1:n.2657-5219_2657-5218insAA (NEB)
ENST00000397345.8:c.24213_24214insAA (NEB) MANE Select ENSP00000380505.3:p.Tyr8072AsnfsTer?
ENST00000427231.7:c.24213_24214insAA (NEB) MANE Plus Clinical ENSP00000416578.2:p.Tyr8072AsnfsTer?
ENST00000172853.14:c.18826-1345_18826-1344insAA (NEB) ENSP00000172853.10:n.18826-1345_18826-134...
ENST00000397337.6:c.614_615insAA (NEB)
ENST00000397345.7:c.24213_24214insAA (NEB) ENSP00000380505.3:p.Tyr8072AsnfsTer?
ENST00000409198.5:c.18826-1345_18826-1344insAA (NEB) ENSP00000386259.1:n.18826-1345_18826-1344...
ENST00000413693.5:c.8026-1345_8026-1344insAA (NEB) ENSP00000410961.1:n.8026-1345_8026-1344in...
ENST00000421461.6:c.649_650insAA (NEB)
ENST00000424585.1:c.610-680_610-679insAA (NEB) ENSP00000404876.1:n.610-680_610-679insAA
ENST00000427231.6:c.24213_24214insAA (NEB) ENSP00000416578.2:p.Tyr8072AsnfsTer?
ENST00000434685.5:c.1395-3460_1395-3459insAA (NEB)
ENST00000454583.6:c.2754-1632_2754-1631insTT (RIF1)
ENST00000457745.1:n.579-73_579-72insTT (RIF1)
ENST00000484077.1:n.353-73_353-72insTT (RIF1)
ENST00000498015.2:n.226-5219_226-5218insAA (NEB)
ENST00000603639.5:c.24213_24214insAA (NEB) ENSP00000473894.1:p.Tyr8072AsnfsTer?
ENST00000604864.5:c.24213_24214insAA (NEB) ENSP00000474498.1:p.Tyr8072AsnfsTer?
ENST00000618972.4:c.24318_24319insAA (NEB) ENSP00000484342.1:p.Tyr8107AsnfsTer?
NM_001164507.1:c.24213_24214insAA (NEB) NP_001157979.1:p.Tyr8072AsnfsTer?
NM_001164508.1:c.24213_24214insAA (NEB) NP_001157980.1:p.Tyr8072AsnfsTer?
NM_001271208.1:c.24318_24319insAA , LRG_202t1:c.24318_24319insAA (NEB) NP_001258137.1:p.Tyr8107AsnfsTer?
NM_004543.4:c.18826-1345_18826-1344insAA (NEB) NP_004534.2:n.18826-1345_18826-1344insAA
XM_005246590.1:c.24120_24121insAA (NEB) XP_005246647.1:p.Tyr8041AsnfsTer?
XM_005246591.1:c.24120_24121insAA (NEB) XP_005246648.1:p.Tyr8041AsnfsTer?
XM_005246592.1:c.24213_24214insAA (NEB) XP_005246649.1:p.Tyr8072AsnfsTer?
XM_005246593.1:c.24213_24214insAA (NEB) XP_005246650.1:p.Tyr8072AsnfsTer?
XM_005246594.1:c.24120_24121insAA (NEB) XP_005246651.1:p.Tyr8041AsnfsTer?
XM_005246595.1:c.24120_24121insAA (NEB) XP_005246652.1:p.Tyr8041AsnfsTer?
XM_005246596.1:c.24027_24028insAA (NEB) XP_005246653.1:p.Tyr8010AsnfsTer?
XM_005246597.1:c.24213_24214insAA (NEB) XP_005246654.1:p.Tyr8072AsnfsTer?
XM_005246598.1:c.24213_24214insAA (NEB) XP_005246655.1:p.Tyr8072AsnfsTer?
XM_005246599.1:c.23934_23935insAA (NEB) XP_005246656.1:p.Tyr7979AsnfsTer?
XM_005246600.1:c.23934_23935insAA (NEB) XP_005246657.1:p.Tyr7979AsnfsTer?
XM_005246601.1:c.23929-680_23929-679insAA (NEB) XP_005246658.1:n.23929-680_23929-679insAA...
XM_005246602.1:c.23841_23842insAA (NEB) XP_005246659.1:p.Tyr7948AsnfsTer?
XM_005246603.1:c.23929-1345_23929-1344insAA (NEB) XP_005246660.1:n.23929-1345_23929-1344ins...
XM_005246604.1:c.23929-680_23929-679insAA (NEB) XP_005246661.1:n.23929-680_23929-679insAA...
XM_005246606.1:c.23841_23842insAA (NEB) XP_005246663.1:p.Tyr7948AsnfsTer?
XM_005246608.1:c.23929-3460_23929-3459insAA (NEB) XP_005246665.1:n.23929-3460_23929-3459ins...
XM_005246610.1:c.23836-3460_23836-3459insAA (NEB) XP_005246667.1:n.23836-3460_23836-3459ins...
XM_005246611.1:c.24021+3678_24021+3679insAA (NEB) XP_005246668.1:n.24021+3678_24021+3679ins...
XM_005246612.1:c.23484_23485insAA (NEB) XP_005246669.1:p.Tyr7829AsnfsTer?
XM_005246613.1:c.23484_23485insAA (NEB) XP_005246670.1:p.Tyr7829AsnfsTer?
XM_005246615.1:c.23841_23842insAA (NEB) XP_005246672.1:p.Tyr7948AsnfsTer?
XM_005246616.1:c.*511_*512insAA (NEB) XP_005246673.1:n.*511_*512insAA
XM_005246617.1:c.21297_21298insAA (NEB) XP_005246674.1:p.Tyr7100AsnfsTer?
XM_006712541.1:c.23929-1345_23929-1344insAA (NEB) XP_006712604.1:n.23929-1345_23929-1344ins...
XM_006712542.1:c.23934_23935insAA (NEB) XP_006712605.1:p.Tyr7979AsnfsTer?
XM_011511224.1:c.24120_24121insAA (NEB) XP_011509526.1:p.Tyr8041AsnfsTer?
XM_011511225.1:c.23743-3460_23743-3459insAA (NEB) XP_011509527.1:n.23743-3460_23743-3459ins...
XM_011511226.1:c.22026_22027insAA (NEB) XP_011509528.1:p.Tyr7343AsnfsTer?
XM_011511227.1:c.19839_19840insAA (NEB) XP_011509529.1:p.Tyr6614AsnfsTer?
XR_922955.1:n.7838+14378_7838+14379insTT (RIF1)
XR_922956.1:n.7937-73_7937-72insTT (RIF1)
XR_922957.1:n.7839-73_7839-72insTT (RIF1)
XM_005246590.2:c.24120_24121insAA (NEB) XP_005246647.1:p.Tyr8041AsnfsTer?
XM_005246591.2:c.24120_24121insAA (NEB) XP_005246648.1:p.Tyr8041AsnfsTer?
XM_005246592.2:c.24213_24214insAA (NEB) XP_005246649.1:p.Tyr8072AsnfsTer?
XM_005246593.2:c.24213_24214insAA (NEB) XP_005246650.1:p.Tyr8072AsnfsTer?
XM_005246594.2:c.24120_24121insAA (NEB) XP_005246651.1:p.Tyr8041AsnfsTer?
XM_005246596.2:c.24027_24028insAA (NEB) XP_005246653.1:p.Tyr8010AsnfsTer?
XM_005246597.2:c.24213_24214insAA (NEB) XP_005246654.1:p.Tyr8072AsnfsTer?
XM_005246598.2:c.24213_24214insAA (NEB) XP_005246655.1:p.Tyr8072AsnfsTer?
XM_005246599.2:c.23934_23935insAA (NEB) XP_005246656.1:p.Tyr7979AsnfsTer?
XM_005246601.2:c.23929-680_23929-679insAA (NEB) XP_005246658.1:n.23929-680_23929-679insAA...
XM_005246602.2:c.23841_23842insAA (NEB) XP_005246659.1:p.Tyr7948AsnfsTer?
XM_005246603.2:c.23929-1345_23929-1344insAA (NEB) XP_005246660.1:n.23929-1345_23929-1344ins...
XM_005246604.2:c.23929-680_23929-679insAA (NEB) XP_005246661.1:n.23929-680_23929-679insAA...
XM_005246606.2:c.23841_23842insAA (NEB) XP_005246663.1:p.Tyr7948AsnfsTer?
XM_005246608.2:c.23929-3460_23929-3459insAA (NEB) XP_005246665.1:n.23929-3460_23929-3459ins...
XM_005246610.2:c.23836-3460_23836-3459insAA (NEB) XP_005246667.1:n.23836-3460_23836-3459ins...
XM_005246611.2:c.24021+3678_24021+3679insAA (NEB) XP_005246668.1:n.24021+3678_24021+3679ins...
XM_005246612.2:c.23484_23485insAA (NEB) XP_005246669.1:p.Tyr7829AsnfsTer?
XM_005246613.2:c.23484_23485insAA (NEB) XP_005246670.1:p.Tyr7829AsnfsTer?
XM_005246615.2:c.23841_23842insAA (NEB) XP_005246672.1:p.Tyr7948AsnfsTer?
XM_005246617.2:c.21297_21298insAA (NEB) XP_005246674.1:p.Tyr7100AsnfsTer?
XM_006712541.2:c.23929-1345_23929-1344insAA (NEB) XP_006712604.1:n.23929-1345_23929-1344ins...
XM_006712542.2:c.23934_23935insAA (NEB) XP_006712605.1:p.Tyr7979AsnfsTer?
XM_011511225.2:c.23743-3460_23743-3459insAA (NEB) XP_011509527.1:n.23743-3460_23743-3459ins...
XM_011511226.2:c.22026_22027insAA (NEB) XP_011509528.1:p.Tyr7343AsnfsTer?
XM_011511227.2:c.19839_19840insAA (NEB) XP_011509529.1:p.Tyr6614AsnfsTer?
XM_017004177.1:c.24102_24103insAA (NEB) XP_016859666.1:p.Tyr8035AsnfsTer?
XM_017004178.1:c.24027_24028insAA (NEB) XP_016859667.1:p.Tyr8010AsnfsTer?
XM_017004179.1:c.23836-680_23836-679insAA (NEB) XP_016859668.1:n.23836-680_23836-679insAA...
XM_017004180.1:c.23748_23749insAA (NEB) XP_016859669.1:p.Tyr7917AsnfsTer?
XM_017004181.1:c.23836-1345_23836-1344insAA (NEB) XP_016859670.1:n.23836-1345_23836-1344ins...
XM_017004182.1:c.23836-1345_23836-1344insAA (NEB) XP_016859671.1:n.23836-1345_23836-1344ins...
XM_017004183.1:c.23836-3460_23836-3459insAA (NEB) XP_016859672.1:n.23836-3460_23836-3459ins...
XM_017004184.1:c.23836-1345_23836-1344insAA (NEB) XP_016859673.1:n.23836-1345_23836-1344ins...
XM_017004185.1:c.23743-5219_23743-5218insAA (NEB) XP_016859674.1:n.23743-5219_23743-5218ins...
XR_001738811.2:n.8312-73_8312-72insTT (RIF1)
XR_001738812.2:n.8312-1692_8312-1691insTT (RIF1)
XR_001738813.2:n.8214-73_8214-72insTT (RIF1)
XR_001738814.2:n.8214-1692_8214-1691insTT (RIF1)
XR_001738815.2:n.8214-5321_8214-5320insTT (RIF1)
XR_001738816.2:n.8214-8497_8214-8496insTT (RIF1)
XR_001738817.2:n.8213+14378_8213+14379insTT (RIF1)
NM_001271208.2:c.24318_24319insAA (NEB) NP_001258137.2:p.Tyr8107AsnfsTer?
NM_004543.5:c.18826-1345_18826-1344insAA (NEB) NP_004534.3:n.18826-1345_18826-1344insAA
NM_001164507.2:c.24213_24214insAA (NEB) MANE Plus Clinical NP_001157979.2:p.Tyr8072AsnfsTer?
NM_001164508.2:c.24213_24214insAA (NEB) MANE Select NP_001157980.2:p.Tyr8072AsnfsTer?