Canonical Allele Identifier: CA2751623082
Gene: LIMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108558231_108558235del , CM000664.2:g.108558231_108558235del GRCh38
NC_000002.11:g.109174687_109174691del , CM000664.1:g.109174687_109174691del GRCh37
NC_000002.10:g.108541119_108541123del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000544547.6:c.32+23637_32+23641del MANE Select ENSP00000437912.1:n.32+23637_32+23641del
ENST00000695516.1:c.59+24423_59+24427del ENSP00000511979.1:n.59+24423_59+24427del
ENST00000695517.1:c.32+23637_32+23641del ENSP00000511980.1:n.32+23637_32+23641del
ENST00000428064.5:c.32+23637_32+23641del ENSP00000390862.1:n.32+23637_32+23641del
ENST00000544547.5:c.32+23637_32+23641del ENSP00000437912.1:n.32+23637_32+23641del
NM_001193483.2:c.32+23637_32+23641del NP_001180412.1:n.32+23637_32+23641del
XM_005263949.1:c.32+23637_32+23641del XP_005264006.1:n.32+23637_32+23641del
XM_017004092.1:c.-84+23637_-84+23641del XP_016859581.1:n.-84+23637_-84+23641del
NM_001193483.3:c.32+23637_32+23641del MANE Select NP_001180412.1:n.32+23637_32+23641del
NM_001371495.1:c.32+23637_32+23641del NP_001358424.1:n.32+23637_32+23641del
NM_001371496.1:c.59+24423_59+24427del NP_001358425.1:n.59+24423_59+24427del
NM_001394896.1:c.32+23637_32+23641del NP_001381825.1:n.32+23637_32+23641del
NM_001394898.1:c.59+24423_59+24427del NP_001381827.1:n.59+24423_59+24427del