Canonical Allele Identifier: CA1104113350

Gene: ABCB4

Linked Data

• dbSNP Id: rs1810832638
• gnomAD v3: 7-87439569-CTA-C
• gnomAD v4: 7-87439569-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87439571_87439572del , CM000669.2:g.87439571_87439572del	GRCh38
NC_000007.13:g.87068887_87068888del , CM000669.1:g.87068887_87068888del	GRCh37
NC_000007.12:g.86906823_86906824del	NCBI36
NG_007118.1:g.45862_45863del
NG_007118.2:g.45862_45863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.1731+96_1731+97del	ENSP00000352135.3:n.1731+96_1731+97del
ENST00000643670.1:c.1747+96_1747+97del	ENSP00000496629.1:n.1747+96_1747+97del
ENST00000644106.1:c.*1268+96_*1268+97del	ENSP00000493477.1:n.*1268+96_*1268+97del
ENST00000649586.2:c.1731+96_1731+97del MANE Select	ENSP00000496956.2:n.1731+96_1731+97del
ENST00000265723.8:c.1731+96_1731+97del	ENSP00000265723.4:n.1731+96_1731+97del
ENST00000358400.7:c.1731+96_1731+97del	ENSP00000351172.3:n.1731+96_1731+97del
ENST00000359206.7:c.1731+96_1731+97del	ENSP00000352135.3:n.1731+96_1731+97del
ENST00000453593.5:c.1731+96_1731+97del	ENSP00000392983.1:n.1731+96_1731+97del
NM_000443.3:c.1731+96_1731+97del	NP_000434.1:n.1731+96_1731+97del
NM_018849.2:c.1731+96_1731+97del	NP_061337.1:n.1731+96_1731+97del
NM_018850.2:c.1731+96_1731+97del	NP_061338.1:n.1731+96_1731+97del
XM_011516308.1:c.1731+96_1731+97del	XP_011514610.1:n.1731+96_1731+97del
XM_011516309.1:c.1731+96_1731+97del	XP_011514611.1:n.1731+96_1731+97del
XM_011516310.1:c.1731+96_1731+97del	XP_011514612.1:n.1731+96_1731+97del
XM_011516311.1:c.1731+96_1731+97del	XP_011514613.1:n.1731+96_1731+97del
XM_011516312.1:c.1731+96_1731+97del	XP_011514614.1:n.1731+96_1731+97del
XM_011516313.1:c.1731+96_1731+97del	XP_011514615.1:n.1731+96_1731+97del
XM_011516314.1:c.1752+96_1752+97del	XP_011514616.1:n.1752+96_1752+97del
XM_011516315.1:c.1071+96_1071+97del	XP_011514617.1:n.1071+96_1071+97del
XR_927478.1:n.1827+96_1827+97del
XM_011516308.3:c.2001+96_2001+97del	XP_011514610.3:n.2001+96_2001+97del
XM_011516309.3:c.2001+96_2001+97del	XP_011514611.3:n.2001+96_2001+97del
XM_011516310.3:c.2001+96_2001+97del	XP_011514612.3:n.2001+96_2001+97del
XM_011516311.3:c.2001+96_2001+97del	XP_011514613.3:n.2001+96_2001+97del
XM_011516312.3:c.2001+96_2001+97del	XP_011514614.3:n.2001+96_2001+97del
XM_011516313.3:c.2001+96_2001+97del	XP_011514615.2:n.2001+96_2001+97del
XM_011516315.3:c.1071+96_1071+97del	XP_011514617.2:n.1071+96_1071+97del
XM_017012323.2:c.1731+96_1731+97del	XP_016867812.1:n.1731+96_1731+97del
XR_001744809.2:n.2502+96_2502+97del
XR_001744810.2:n.2497+96_2497+97del
NM_000443.4:c.1731+96_1731+97del MANE Select	NP_000434.1:n.1731+96_1731+97del
NM_018849.3:c.1731+96_1731+97del	NP_061337.1:n.1731+96_1731+97del
NM_018850.3:c.1731+96_1731+97del	NP_061338.1:n.1731+96_1731+97del