Canonical Allele Identifier: CA1104125956

Gene: ABCB1

Linked Data

• dbSNP Id: rs1376573110
• gnomAD v3: 7-87530822-C-CAAGAAAGAAAGA
• gnomAD v4: 7-87530822-C-CAAGAAAGAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530829_87530830insAAAGAAAGAAAG , CM000669.2:g.87530829_87530830insAAAGAAAGAAAG	GRCh38
NC_000007.13:g.87160145_87160146insAAAGAAAGAAAG , CM000669.1:g.87160145_87160146insAAAGAAAGAAAG	GRCh37
NC_000007.12:g.86998081_86998082insAAAGAAAGAAAG	NCBI36
NG_011513.1:g.187426_187427insTCTTTCTTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+471_2685+472insTCTTTCTTTCTT	ENSP00000265724.3:n.2685+471_2685+472insTCTTTCTTTCTT
ENST00000622132.5:c.2685+471_2685+472insTCTTTCTTTCTT MANE Select	ENSP00000478255.1:n.2685+471_2685+472insTCTTTCTTTCTT
ENST00000265724.7:c.2685+471_2685+472insTCTTTCTTTCTT	ENSP00000265724.3:n.2685+471_2685+472insTCTTTCTTTCTT
ENST00000488737.6:n.327+471_327+472insTCTTTCTTTCTT
ENST00000496821.5:n.313+471_313+472insTCTTTCTTTCTT
ENST00000543898.5:c.2493+471_2493+472insTCTTTCTTTCTT	ENSP00000444095.1:n.2493+471_2493+472insTCTTTCTTTCTT
ENST00000622132.4:c.2685+471_2685+472insTCTTTCTTTCTT	ENSP00000478255.1:n.2685+471_2685+472insTCTTTCTTTCTT
NM_000927.4:c.2685+471_2685+472insTCTTTCTTTCTT	NP_000918.2:n.2685+471_2685+472insTCTTTCTTTCTT
NM_001348944.1:c.2685+471_2685+472insTCTTTCTTTCTT	NP_001335873.1:n.2685+471_2685+472insTCTTTCTTTCTT
NM_001348945.1:c.2895+471_2895+472insTCTTTCTTTCTT	NP_001335874.1:n.2895+471_2895+472insTCTTTCTTTCTT
NM_001348946.1:c.2685+471_2685+472insTCTTTCTTTCTT	NP_001335875.1:n.2685+471_2685+472insTCTTTCTTTCTT
NM_001348946.2:c.2685+471_2685+472insTCTTTCTTTCTT MANE Select	NP_001335875.1:n.2685+471_2685+472insTCTTTCTTTCTT
NM_000927.5:c.2685+471_2685+472insTCTTTCTTTCTT	NP_000918.2:n.2685+471_2685+472insTCTTTCTTTCTT
NM_001348944.2:c.2685+471_2685+472insTCTTTCTTTCTT	NP_001335873.1:n.2685+471_2685+472insTCTTTCTTTCTT
NM_001348945.2:c.2895+471_2895+472insTCTTTCTTTCTT	NP_001335874.1:n.2895+471_2895+472insTCTTTCTTTCTT