Canonical Allele Identifier: CA1104126245

Gene: ABCB1

Linked Data

• dbSNP Id: rs1816025557
• gnomAD v3: 7-87530893-G-GAAAGAAAAAGAA
• gnomAD v4: 7-87530893-G-GAAAGAAAAAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530895_87530896insAGAAAAAGAAAA , CM000669.2:g.87530895_87530896insAGAAAAAGAAAA	GRCh38
NC_000007.13:g.87160211_87160212insAGAAAAAGAAAA , CM000669.1:g.87160211_87160212insAGAAAAAGAAAA	GRCh37
NC_000007.12:g.86998147_86998148insAGAAAAAGAAAA	NCBI36
NG_011513.1:g.187355_187356insTTCTTTTTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+400_2685+401insTTCTTTTTCTTT	ENSP00000265724.3:n.2685+400_2685+401insTTCTTTTTCTTT
ENST00000622132.5:c.2685+400_2685+401insTTCTTTTTCTTT MANE Select	ENSP00000478255.1:n.2685+400_2685+401insTTCTTTTTCTTT
ENST00000265724.7:c.2685+400_2685+401insTTCTTTTTCTTT	ENSP00000265724.3:n.2685+400_2685+401insTTCTTTTTCTTT
ENST00000488737.6:n.327+400_327+401insTTCTTTTTCTTT
ENST00000496821.5:n.313+400_313+401insTTCTTTTTCTTT
ENST00000543898.5:c.2493+400_2493+401insTTCTTTTTCTTT	ENSP00000444095.1:n.2493+400_2493+401insTTCTTTTTCTTT
ENST00000622132.4:c.2685+400_2685+401insTTCTTTTTCTTT	ENSP00000478255.1:n.2685+400_2685+401insTTCTTTTTCTTT
NM_000927.4:c.2685+400_2685+401insTTCTTTTTCTTT	NP_000918.2:n.2685+400_2685+401insTTCTTTTTCTTT
NM_001348944.1:c.2685+400_2685+401insTTCTTTTTCTTT	NP_001335873.1:n.2685+400_2685+401insTTCTTTTTCTTT
NM_001348945.1:c.2895+400_2895+401insTTCTTTTTCTTT	NP_001335874.1:n.2895+400_2895+401insTTCTTTTTCTTT
NM_001348946.1:c.2685+400_2685+401insTTCTTTTTCTTT	NP_001335875.1:n.2685+400_2685+401insTTCTTTTTCTTT
NM_001348946.2:c.2685+400_2685+401insTTCTTTTTCTTT MANE Select	NP_001335875.1:n.2685+400_2685+401insTTCTTTTTCTTT
NM_000927.5:c.2685+400_2685+401insTTCTTTTTCTTT	NP_000918.2:n.2685+400_2685+401insTTCTTTTTCTTT
NM_001348944.2:c.2685+400_2685+401insTTCTTTTTCTTT	NP_001335873.1:n.2685+400_2685+401insTTCTTTTTCTTT
NM_001348945.2:c.2895+400_2895+401insTTCTTTTTCTTT	NP_001335874.1:n.2895+400_2895+401insTTCTTTTTCTTT