Canonical Allele Identifier: CA1104137111

Gene: ABCB1

Linked Data

• dbSNP Id: rs1819429185
• gnomAD v3: 7-87600927-TCAGCC-T
• gnomAD v4: 7-87600927-TCAGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600930_87600934del , CM000669.2:g.87600930_87600934del	GRCh38
NC_000007.13:g.87230246_87230250del , CM000669.1:g.87230246_87230250del	GRCh37
NC_000007.12:g.87068182_87068186del	NCBI36
NG_011513.1:g.117317_117321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.-184_-180del	ENSP00000265724.3:n.-184_-180del
ENST00000265724.7:c.-184_-180del	ENSP00000265724.3:n.-184_-180del
ENST00000416177.1:c.-78+41_-78+45del	ENSP00000399419.1:n.-78+41_-78+45del
ENST00000476862.1:n.463_467del
ENST00000543898.5:c.-184_-180del	ENSP00000444095.1:n.-184_-180del
ENST00000622132.4:c.-184_-180del	ENSP00000478255.1:n.-184_-180del
NM_000927.4:c.-184_-180del	NP_000918.2:n.-184_-180del
NM_001348944.1:c.-78+41_-78+45del	NP_001335873.1:n.-78+41_-78+45del
NM_001348945.1:c.133+41_133+45del	NP_001335874.1:n.133+41_133+45del
NM_000927.5:c.-184_-180del	NP_000918.2:n.-184_-180del
NM_001348944.2:c.-78+41_-78+45del	NP_001335873.1:n.-78+41_-78+45del
NM_001348945.2:c.133+41_133+45del	NP_001335874.1:n.133+41_133+45del