Canonical Allele Identifier: CA1723573213

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87411988_87411989delinsGA , CM000669.2:g.87411988_87411989delinsGA	GRCh38
NC_000007.13:g.87041304_87041305delinsGA , CM000669.1:g.87041304_87041305delinsGA	GRCh37
NC_000007.12:g.86879240_86879241delinsGA	NCBI36
NG_007118.1:g.73444_73445delinsTC
NG_007118.2:g.73444_73445delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2828_2829delinsTC	ENSP00000352135.3:p.Ile943=
ENST00000649586.2:c.2828_2829delinsTC MANE Select	ENSP00000496956.2:p.Ile943=
ENST00000265723.8:c.2828_2829delinsTC	ENSP00000265723.4:p.Ile943=
ENST00000358400.7:c.2783+1628_2783+1629delinsTC	ENSP00000351172.3:n.2783+1628_2783+1629delinsTC
ENST00000359206.7:c.2828_2829delinsTC	ENSP00000352135.3:p.Ile943=
ENST00000453593.5:c.2783+1628_2783+1629delinsTC	ENSP00000392983.1:n.2783+1628_2783+1629delinsTC
NM_000443.3:c.2828_2829delinsTC	NP_000434.1:p.Ile943=
NM_018849.2:c.2828_2829delinsTC	NP_061337.1:p.Ile943=
NM_018850.2:c.2783+1628_2783+1629delinsTC	NP_061338.1:n.2783+1628_2783+1629delinsTC
XM_011516308.1:c.2828_2829delinsTC	XP_011514610.1:p.Ile943=
XM_011516309.1:c.2828_2829delinsTC	XP_011514611.1:p.Ile943=
XM_011516310.1:c.2723_2724delinsTC	XP_011514612.1:p.Ile908=
XM_011516311.1:c.2784-85_2784-84delinsTC	XP_011514613.1:n.2784-85_2784-84delinsTC
XM_011516312.1:c.2783+1628_2783+1629delinsTC	XP_011514614.1:n.2783+1628_2783+1629delinsTC
XM_011516313.1:c.2783+1628_2783+1629delinsTC	XP_011514615.1:n.2783+1628_2783+1629delinsTC
XM_011516314.1:c.2849_2850delinsTC	XP_011514616.1:p.Ile950=
XM_011516315.1:c.2168_2169delinsTC	XP_011514617.1:p.Ile723=
XR_927478.1:n.2779-2597_2779-2596delinsTC
XM_011516308.3:c.3098_3099delinsTC	XP_011514610.3:p.Ile1033=
XM_011516309.3:c.3098_3099delinsTC	XP_011514611.3:p.Ile1033=
XM_011516310.3:c.2993_2994delinsTC	XP_011514612.3:p.Ile998=
XM_011516311.3:c.3054-85_3054-84delinsTC	XP_011514613.3:n.3054-85_3054-84delinsTC
XM_011516312.3:c.3053+1628_3053+1629delinsTC	XP_011514614.3:n.3053+1628_3053+1629delinsTC
XM_011516313.3:c.3053+1628_3053+1629delinsTC	XP_011514615.2:n.3053+1628_3053+1629delinsTC
XM_011516315.3:c.2168_2169delinsTC	XP_011514617.2:p.Ile723=
XM_017012323.2:c.2828_2829delinsTC	XP_016867812.1:p.Ile943=
XR_001744809.2:n.3454-2597_3454-2596delinsTC
NM_000443.4:c.2828_2829delinsTC MANE Select	NP_000434.1:p.Ile943=
NM_018849.3:c.2828_2829delinsTC	NP_061337.1:p.Ile943=
NM_018850.3:c.2783+1628_2783+1629delinsTC	NP_061338.1:n.2783+1628_2783+1629delinsTC