Canonical Allele Identifier: CA1104126215

Gene: ABCB1

Linked Data

• dbSNP Id: rs1816023470
• gnomAD v3: 7-87530878-G-GAAAGAAAGAAAAA
• gnomAD v4: 7-87530878-G-GAAAGAAAGAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530885_87530886insGAAAAAAAAGAAA , CM000669.2:g.87530885_87530886insGAAAAAAAAGAAA	GRCh38
NC_000007.13:g.87160201_87160202insGAAAAAAAAGAAA , CM000669.1:g.87160201_87160202insGAAAAAAAAGAAA	GRCh37
NC_000007.12:g.86998137_86998138insGAAAAAAAAGAAA	NCBI36
NG_011513.1:g.187370_187371insTTTTTCTTTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+415_2685+416insTTTTTCTTTCTTT	ENSP00000265724.3:n.2685+415_2685+416insTTTTTCTTTCTTT
ENST00000622132.5:c.2685+415_2685+416insTTTTTCTTTCTTT MANE Select	ENSP00000478255.1:n.2685+415_2685+416insTTTTTCTTTCTTT
ENST00000265724.7:c.2685+415_2685+416insTTTTTCTTTCTTT	ENSP00000265724.3:n.2685+415_2685+416insTTTTTCTTTCTTT
ENST00000488737.6:n.327+415_327+416insTTTTTCTTTCTTT
ENST00000496821.5:n.313+415_313+416insTTTTTCTTTCTTT
ENST00000543898.5:c.2493+415_2493+416insTTTTTCTTTCTTT	ENSP00000444095.1:n.2493+415_2493+416insTTTTTCTTTCTTT
ENST00000622132.4:c.2685+415_2685+416insTTTTTCTTTCTTT	ENSP00000478255.1:n.2685+415_2685+416insTTTTTCTTTCTTT
NM_000927.4:c.2685+415_2685+416insTTTTTCTTTCTTT	NP_000918.2:n.2685+415_2685+416insTTTTTCTTTCTTT
NM_001348944.1:c.2685+415_2685+416insTTTTTCTTTCTTT	NP_001335873.1:n.2685+415_2685+416insTTTTTCTTTCTTT
NM_001348945.1:c.2895+415_2895+416insTTTTTCTTTCTTT	NP_001335874.1:n.2895+415_2895+416insTTTTTCTTTCTTT
NM_001348946.1:c.2685+415_2685+416insTTTTTCTTTCTTT	NP_001335875.1:n.2685+415_2685+416insTTTTTCTTTCTTT
NM_001348946.2:c.2685+415_2685+416insTTTTTCTTTCTTT MANE Select	NP_001335875.1:n.2685+415_2685+416insTTTTTCTTTCTTT
NM_000927.5:c.2685+415_2685+416insTTTTTCTTTCTTT	NP_000918.2:n.2685+415_2685+416insTTTTTCTTTCTTT
NM_001348944.2:c.2685+415_2685+416insTTTTTCTTTCTTT	NP_001335873.1:n.2685+415_2685+416insTTTTTCTTTCTTT
NM_001348945.2:c.2895+415_2895+416insTTTTTCTTTCTTT	NP_001335874.1:n.2895+415_2895+416insTTTTTCTTTCTTT