Canonical Allele Identifier: CA1104131659

Gene: ABCB1

Linked Data

• dbSNP Id: rs1816696251
• gnomAD v3: 7-87544757-CTAG-C
• gnomAD v4: 7-87544757-CTAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87544758_87544760del , CM000669.2:g.87544758_87544760del	GRCh38
NC_000007.13:g.87174074_87174076del , CM000669.1:g.87174074_87174076del	GRCh37
NC_000007.12:g.87012010_87012012del	NCBI36
NG_011513.1:g.173489_173491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2064+63_2064+65del	ENSP00000265724.3:n.2064+63_2064+65del
ENST00000622132.5:c.2064+63_2064+65del MANE Select	ENSP00000478255.1:n.2064+63_2064+65del
ENST00000265724.7:c.2064+63_2064+65del	ENSP00000265724.3:n.2064+63_2064+65del
ENST00000543898.5:c.1872+63_1872+65del	ENSP00000444095.1:n.1872+63_1872+65del
ENST00000622132.4:c.2064+63_2064+65del	ENSP00000478255.1:n.2064+63_2064+65del
NM_000927.4:c.2064+63_2064+65del	NP_000918.2:n.2064+63_2064+65del
NM_001348944.1:c.2064+63_2064+65del	NP_001335873.1:n.2064+63_2064+65del
NM_001348945.1:c.2274+63_2274+65del	NP_001335874.1:n.2274+63_2274+65del
NM_001348946.1:c.2064+63_2064+65del	NP_001335875.1:n.2064+63_2064+65del
NM_001348946.2:c.2064+63_2064+65del MANE Select	NP_001335875.1:n.2064+63_2064+65del
NM_000927.5:c.2064+63_2064+65del	NP_000918.2:n.2064+63_2064+65del
NM_001348944.2:c.2064+63_2064+65del	NP_001335873.1:n.2064+63_2064+65del
NM_001348945.2:c.2274+63_2274+65del	NP_001335874.1:n.2274+63_2274+65del