Canonical Allele Identifier: CA4328719

Gene: ABCB1

Linked Data

• dbSNP Id: rs781599319
• ExAC: 7:87229456 GTTC / G
• gnomAD v2: 7-87229456-GTTC-G
• gnomAD v3: 7-87600140-GTTC-G
• gnomAD v4: 7-87600140-GTTC-G
• COSMIC: COSM1452595 ; COSM1684107
• MyVariant Identifiers: chr7:g.87229457_87229459del (hg19) ; chr7:g.87600142_87600144del (hg38) ; chr7:g.87600141_87600143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600149_87600151del , CM000669.2:g.87600149_87600151del	GRCh38
NC_000007.13:g.87229465_87229467del , CM000669.1:g.87229465_87229467del	GRCh37
NC_000007.12:g.87067401_87067403del	NCBI36
NG_011513.1:g.118106_118108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.42_44del	ENSP00000265724.3:p.Lys14del
ENST00000622132.5:c.42_44del MANE Select	ENSP00000478255.1:p.Lys14del
ENST00000265724.7:c.42_44del	ENSP00000265724.3:p.Lys14del
ENST00000416177.1:c.42_44del	ENSP00000399419.1:p.Lys14del
ENST00000543898.5:c.42_44del	ENSP00000444095.1:p.Lys14del
ENST00000622132.4:c.42_44del	ENSP00000478255.1:p.Lys14del
NM_000927.4:c.42_44del	NP_000918.2:p.Lys14del
NM_001348944.1:c.42_44del	NP_001335873.1:p.Lys14del
NM_001348945.1:c.252_254del	NP_001335874.1:p.Lys84del
NM_001348946.1:c.42_44del	NP_001335875.1:p.Lys14del
NM_001348946.2:c.42_44del MANE Select	NP_001335875.1:p.Lys14del
NM_000927.5:c.42_44del	NP_000918.2:p.Lys14del
NM_001348944.2:c.42_44del	NP_001335873.1:p.Lys14del
NM_001348945.2:c.252_254del	NP_001335874.1:p.Lys84del