Canonical Allele Identifier: CA4327513

Gene: ABCB4

Linked Data

• dbSNP Id: rs778740482
• ExAC: 7:87082215 GT / G
• gnomAD v2: 7-87082215-GT-G
• gnomAD v3: 7-87452899-GT-G
• gnomAD v4: 7-87452899-GT-G
• MyVariant Identifiers: chr7:g.87082216del (hg19) ; chr7:g.87452900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87452900del , CM000669.2:g.87452900del	GRCh38
NC_000007.13:g.87082216del , CM000669.1:g.87082216del	GRCh37
NC_000007.12:g.86920152del	NCBI36
NG_007118.1:g.32533del
NG_007118.2:g.32533del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.536+44del	ENSP00000352135.3:n.536+44del
ENST00000643670.1:c.479+44del	ENSP00000496629.1:n.479+44del
ENST00000644106.1:c.536+44del	ENSP00000493477.1:n.536+44del
ENST00000649586.2:c.536+44del MANE Select	ENSP00000496956.2:n.536+44del
ENST00000265723.8:c.536+44del	ENSP00000265723.4:n.536+44del
ENST00000358400.7:c.536+44del	ENSP00000351172.3:n.536+44del
ENST00000359206.7:c.536+44del	ENSP00000352135.3:n.536+44del
ENST00000453593.5:c.536+44del	ENSP00000392983.1:n.536+44del
ENST00000473795.1:n.587del
NM_000443.3:c.536+44del	NP_000434.1:n.536+44del
NM_018849.2:c.536+44del	NP_061337.1:n.536+44del
NM_018850.2:c.536+44del	NP_061338.1:n.536+44del
XM_011516308.1:c.536+44del	XP_011514610.1:n.536+44del
XM_011516309.1:c.536+44del	XP_011514611.1:n.536+44del
XM_011516310.1:c.536+44del	XP_011514612.1:n.536+44del
XM_011516311.1:c.536+44del	XP_011514613.1:n.536+44del
XM_011516312.1:c.536+44del	XP_011514614.1:n.536+44del
XM_011516313.1:c.536+44del	XP_011514615.1:n.536+44del
XM_011516314.1:c.557+44del	XP_011514616.1:n.557+44del
XM_011516315.1:c.-48+44del	XP_011514617.1:n.-48+44del
XR_927478.1:n.632+44del
XM_011516308.3:c.806+44del	XP_011514610.3:n.806+44del
XM_011516309.3:c.806+44del	XP_011514611.3:n.806+44del
XM_011516310.3:c.806+44del	XP_011514612.3:n.806+44del
XM_011516311.3:c.806+44del	XP_011514613.3:n.806+44del
XM_011516312.3:c.806+44del	XP_011514614.3:n.806+44del
XM_011516313.3:c.806+44del	XP_011514615.2:n.806+44del
XM_011516315.3:c.-48+44del	XP_011514617.2:n.-48+44del
XM_017012323.2:c.536+44del	XP_016867812.1:n.536+44del
XR_001744809.2:n.1307+44del
XR_001744810.2:n.1302+44del
NM_000443.4:c.536+44del MANE Select	NP_000434.1:n.536+44del
NM_018849.3:c.536+44del	NP_061337.1:n.536+44del
NM_018850.3:c.536+44del	NP_061338.1:n.536+44del