Canonical Allele Identifier: CA1723628468
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87520405_87520415delinsCCCAGGAAGCA , CM000669.2:g.87520405_87520415delinsCCCAGGAAGCA GRCh38
NC_000007.13:g.87149721_87149731delinsCCCAGGAAGCA , CM000669.1:g.87149721_87149731delinsCCCAGGAAGCA GRCh37
NC_000007.12:g.86987657_86987667delinsCCCAGGAAGCA NCBI36
NG_011513.1:g.197834_197844delinsTGCTTCCTGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.2786+361_2786+371delinsTGCTTCCTGGG ENSP00000265724.3:n.2786+361_2786+371deli...
ENST00000622132.5:c.2786+361_2786+371delinsTGCTTCCTGGG MANE Select ENSP00000478255.1:n.2786+361_2786+371deli...
ENST00000265724.7:c.2786+361_2786+371delinsTGCTTCCTGGG ENSP00000265724.3:n.2786+361_2786+371deli...
ENST00000483831.1:n.344+361_344+371delinsTGCTTCCTGGG
ENST00000488737.6:n.428+361_428+371delinsTGCTTCCTGGG
ENST00000496821.5:n.414+361_414+371delinsTGCTTCCTGGG
ENST00000543898.5:c.2594+361_2594+371delinsTGCTTCCTGGG ENSP00000444095.1:n.2594+361_2594+371deli...
ENST00000622132.4:c.2786+361_2786+371delinsTGCTTCCTGGG ENSP00000478255.1:n.2786+361_2786+371deli...
NM_000927.4:c.2786+361_2786+371delinsTGCTTCCTGGG NP_000918.2:n.2786+361_2786+371delinsTGCT...
NM_001348944.1:c.2786+361_2786+371delinsTGCTTCCTGGG NP_001335873.1:n.2786+361_2786+371delinsT...
NM_001348945.1:c.2996+361_2996+371delinsTGCTTCCTGGG NP_001335874.1:n.2996+361_2996+371delinsT...
NM_001348946.1:c.2786+361_2786+371delinsTGCTTCCTGGG NP_001335875.1:n.2786+361_2786+371delinsT...
NM_001348946.2:c.2786+361_2786+371delinsTGCTTCCTGGG MANE Select NP_001335875.1:n.2786+361_2786+371delinsT...
NM_000927.5:c.2786+361_2786+371delinsTGCTTCCTGGG NP_000918.2:n.2786+361_2786+371delinsTGCT...
NM_001348944.2:c.2786+361_2786+371delinsTGCTTCCTGGG NP_001335873.1:n.2786+361_2786+371delinsT...
NM_001348945.2:c.2996+361_2996+371delinsTGCTTCCTGGG NP_001335874.1:n.2996+361_2996+371delinsT...