Canonical Allele Identifier: CA162474176

Gene: ABCB1

Linked Data

• dbSNP Id: rs919386168
• gnomAD v3: 7-87599901-GAA-G
• gnomAD v4: 7-87599901-GAA-G
• MyVariant Identifiers: chr7:g.87229218_87229219del (hg19) ; chr7:g.87599902_87599903del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87599903_87599904del , CM000669.2:g.87599903_87599904del	GRCh38
NC_000007.13:g.87229219_87229220del , CM000669.1:g.87229219_87229220del	GRCh37
NC_000007.12:g.87067155_87067156del	NCBI36
NG_011513.1:g.118346_118347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.68+214_68+215del	ENSP00000265724.3:n.68+214_68+215del
ENST00000622132.5:c.68+214_68+215del MANE Select	ENSP00000478255.1:n.68+214_68+215del
ENST00000265724.7:c.68+214_68+215del	ENSP00000265724.3:n.68+214_68+215del
ENST00000416177.1:c.68+214_68+215del	ENSP00000399419.1:n.68+214_68+215del
ENST00000543898.5:c.68+214_68+215del	ENSP00000444095.1:n.68+214_68+215del
ENST00000622132.4:c.68+214_68+215del	ENSP00000478255.1:n.68+214_68+215del
NM_000927.4:c.68+214_68+215del	NP_000918.2:n.68+214_68+215del
NM_001348944.1:c.68+214_68+215del	NP_001335873.1:n.68+214_68+215del
NM_001348945.1:c.278+214_278+215del	NP_001335874.1:n.278+214_278+215del
NM_001348946.1:c.68+214_68+215del	NP_001335875.1:n.68+214_68+215del
NM_001348946.2:c.68+214_68+215del MANE Select	NP_001335875.1:n.68+214_68+215del
NM_000927.5:c.68+214_68+215del	NP_000918.2:n.68+214_68+215del
NM_001348944.2:c.68+214_68+215del	NP_001335873.1:n.68+214_68+215del
NM_001348945.2:c.278+214_278+215del	NP_001335874.1:n.278+214_278+215del