Canonical Allele Identifier: CA2749707454
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43917980_43917990del , CM000664.2:g.43917980_43917990del GRCh38
NC_000002.11:g.44145119_44145129del , CM000664.1:g.44145119_44145129del GRCh37
NC_000002.10:g.43998623_43998633del NCBI36
NG_008247.1:g.83016_83026del

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.700+35_700+45del
ENST00000682295.1:c.303+266_303+276del ENSP00000507499.1:n.303+266_303+276del
ENST00000682303.1:c.*2934+35_*2934+45del ENSP00000508325.1:n.*2934+35_*2934+45del
ENST00000682308.1:c.3148+35_3148+45del ENSP00000507056.1:n.3148+35_3148+45del
ENST00000682480.1:c.3166+35_3166+45del ENSP00000508344.1:n.3166+35_3166+45del
ENST00000682546.1:c.3145+35_3145+45del ENSP00000508188.1:n.3145+35_3145+45del
ENST00000682585.1:c.3148+35_3148+45del ENSP00000506885.1:n.3148+35_3148+45del
ENST00000682595.1:n.3732+35_3732+45del
ENST00000682607.1:c.1566+35_1566+45del
ENST00000682779.1:c.3139+35_3139+45del ENSP00000507947.1:n.3139+35_3139+45del
ENST00000682845.1:n.2250+35_2250+45del
ENST00000682885.1:c.3103+35_3103+45del ENSP00000508036.1:n.3103+35_3103+45del
ENST00000682933.1:n.3222+35_3222+45del
ENST00000683072.1:n.3732+35_3732+45del
ENST00000683080.1:n.767+35_767+45del
ENST00000683125.1:c.3256+35_3256+45del ENSP00000507939.1:n.3256+35_3256+45del
ENST00000683213.1:c.3151+35_3151+45del ENSP00000507751.1:n.3151+35_3151+45del
ENST00000683220.1:c.3178+35_3178+45del ENSP00000507151.1:n.3178+35_3178+45del
ENST00000683329.1:n.3951+35_3951+45del
ENST00000683346.1:c.*3023+35_*3023+45del ENSP00000507458.1:n.*3023+35_*3023+45del
ENST00000683409.1:n.1755+35_1755+45del
ENST00000683459.1:n.3735+35_3735+45del
ENST00000683590.1:c.2897-5432_2897-5422del ENSP00000506820.1:n.2897-5432_2897-5422del
ENST00000683623.1:c.3055+35_3055+45del ENSP00000507702.1:n.3055+35_3055+45del
ENST00000683645.1:n.3699+35_3699+45del
ENST00000683796.1:c.*3020+35_*3020+45del ENSP00000508221.1:n.*3020+35_*3020+45del
ENST00000683802.1:n.6073+35_6073+45del
ENST00000683833.1:c.3139+35_3139+45del ENSP00000506852.1:n.3139+35_3139+45del
ENST00000683994.1:c.3148+35_3148+45del ENSP00000507181.1:n.3148+35_3148+45del
ENST00000684290.1:c.*684+35_*684+45del ENSP00000507243.1:n.*684+35_*684+45del
ENST00000684306.1:c.*3061+35_*3061+45del ENSP00000508384.1:n.*3061+35_*3061+45del
ENST00000684341.1:n.3168+35_3168+45del
ENST00000684383.1:c.*2786+35_*2786+45del ENSP00000506863.1:n.*2786+35_*2786+45del
ENST00000684619.1:c.*3020+35_*3020+45del ENSP00000508088.1:n.*3020+35_*3020+45del
ENST00000684705.1:n.304_314del
ENST00000684743.1:n.4179+35_4179+45del
ENST00000260665.12:c.3148+35_3148+45del MANE Select ENSP00000260665.7:n.3148+35_3148+45del
ENST00000260665.11:c.3148+35_3148+45del ENSP00000260665.7:n.3148+35_3148+45del
NM_133259.3:c.3148+35_3148+45del NP_573566.2:n.3148+35_3148+45del
XM_006711915.2:c.3070+35_3070+45del XP_006711978.1:n.3070+35_3070+45del
XM_006711916.2:c.3147+36_3147+46del XP_006711979.1:n.3147+36_3147+46del
XM_011532473.1:c.3148+35_3148+45del XP_011530775.1:n.3148+35_3148+45del
XM_011532474.1:c.3148+35_3148+45del XP_011530776.1:n.3148+35_3148+45del
XM_006711916.3:c.3147+36_3147+46del XP_006711979.1:n.3147+36_3147+46del
XM_017003117.1:c.3070+35_3070+45del XP_016858606.1:n.3070+35_3070+45del
XR_002958896.1:n.3190+35_3190+45del
NM_133259.4:c.3148+35_3148+45del MANE Select NP_573566.2:n.3148+35_3148+45del