Canonical Allele Identifier: CA576267645

Gene: ABCB1

Linked Data

• dbSNP Id: rs1371166176
• gnomAD v2: 7-87179380-AAAGT-A
• gnomAD v3: 7-87550064-AAAGT-A
• gnomAD v4: 7-87550064-AAAGT-A
• MyVariant Identifiers: chr7:g.87179381_87179384del (hg19) ; chr7:g.87550065_87550068del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550069_87550072del , CM000669.2:g.87550069_87550072del	GRCh38
NC_000007.13:g.87179385_87179388del , CM000669.1:g.87179385_87179388del	GRCh37
NC_000007.12:g.87017321_87017324del	NCBI36
NG_011513.1:g.168181_168184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1351-14_1351-11del	ENSP00000265724.3:n.1351-14_1351-11del
ENST00000622132.5:c.1351-14_1351-11del MANE Select	ENSP00000478255.1:n.1351-14_1351-11del
ENST00000265724.7:c.1351-14_1351-11del	ENSP00000265724.3:n.1351-14_1351-11del
ENST00000482527.1:n.91_94del
ENST00000543898.5:c.1159-14_1159-11del	ENSP00000444095.1:n.1159-14_1159-11del
ENST00000622132.4:c.1351-14_1351-11del	ENSP00000478255.1:n.1351-14_1351-11del
NM_000927.4:c.1351-14_1351-11del	NP_000918.2:n.1351-14_1351-11del
NM_001348944.1:c.1351-14_1351-11del	NP_001335873.1:n.1351-14_1351-11del
NM_001348945.1:c.1561-14_1561-11del	NP_001335874.1:n.1561-14_1561-11del
NM_001348946.1:c.1351-14_1351-11del	NP_001335875.1:n.1351-14_1351-11del
NM_001348946.2:c.1351-14_1351-11del MANE Select	NP_001335875.1:n.1351-14_1351-11del
NM_000927.5:c.1351-14_1351-11del	NP_000918.2:n.1351-14_1351-11del
NM_001348944.2:c.1351-14_1351-11del	NP_001335873.1:n.1351-14_1351-11del
NM_001348945.2:c.1561-14_1561-11del	NP_001335874.1:n.1561-14_1561-11del