Canonical Allele Identifier: CA1723592974

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87431459_87431460delinsCT , CM000669.2:g.87431459_87431460delinsCT	GRCh38
NC_000007.13:g.87060775_87060776delinsCT , CM000669.1:g.87060775_87060776delinsCT	GRCh37
NC_000007.12:g.86898711_86898712delinsCT	NCBI36
NG_007118.1:g.53973_53974delinsAG
NG_007118.2:g.53973_53974delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.1837_1838delinsAG	ENSP00000352135.3:p.Ser613=
ENST00000643670.1:c.1853_1854delinsAG	ENSP00000496629.1:n.1853_1854delinsAG
ENST00000644106.1:c.*1374_*1375delinsAG	ENSP00000493477.1:n.*1374_*1375delinsAG
ENST00000649586.2:c.1837_1838delinsAG MANE Select	ENSP00000496956.2:p.Ser613=
ENST00000265723.8:c.1837_1838delinsAG	ENSP00000265723.4:p.Ser613=
ENST00000358400.7:c.1837_1838delinsAG	ENSP00000351172.3:p.Ser613=
ENST00000359206.7:c.1837_1838delinsAG	ENSP00000352135.3:p.Ser613=
ENST00000453593.5:c.1837_1838delinsAG	ENSP00000392983.1:p.Ser613=
ENST00000469770.1:n.41_42delinsAG
NM_000443.3:c.1837_1838delinsAG	NP_000434.1:p.Ser613=
NM_018849.2:c.1837_1838delinsAG	NP_061337.1:p.Ser613=
NM_018850.2:c.1837_1838delinsAG	NP_061338.1:p.Ser613=
XM_011516308.1:c.1837_1838delinsAG	XP_011514610.1:p.Ser613=
XM_011516309.1:c.1837_1838delinsAG	XP_011514611.1:p.Ser613=
XM_011516310.1:c.1837_1838delinsAG	XP_011514612.1:p.Ser613=
XM_011516311.1:c.1837_1838delinsAG	XP_011514613.1:p.Ser613=
XM_011516312.1:c.1837_1838delinsAG	XP_011514614.1:p.Ser613=
XM_011516313.1:c.1837_1838delinsAG	XP_011514615.1:p.Ser613=
XM_011516314.1:c.1858_1859delinsAG	XP_011514616.1:p.Ser620=
XM_011516315.1:c.1177_1178delinsAG	XP_011514617.1:p.Ser393=
XR_927478.1:n.1933_1934delinsAG
XM_011516308.3:c.2107_2108delinsAG	XP_011514610.3:p.Ser703=
XM_011516309.3:c.2107_2108delinsAG	XP_011514611.3:p.Ser703=
XM_011516310.3:c.2107_2108delinsAG	XP_011514612.3:p.Ser703=
XM_011516311.3:c.2107_2108delinsAG	XP_011514613.3:p.Ser703=
XM_011516312.3:c.2107_2108delinsAG	XP_011514614.3:p.Ser703=
XM_011516313.3:c.2107_2108delinsAG	XP_011514615.2:p.Ser703=
XM_011516315.3:c.1177_1178delinsAG	XP_011514617.2:p.Ser393=
XM_017012323.2:c.1837_1838delinsAG	XP_016867812.1:p.Ser613=
XR_001744809.2:n.2608_2609delinsAG
XR_001744810.2:n.2603_2604delinsAG
NM_000443.4:c.1837_1838delinsAG MANE Select	NP_000434.1:p.Ser613=
NM_018849.3:c.1837_1838delinsAG	NP_061337.1:p.Ser613=
NM_018850.3:c.1837_1838delinsAG	NP_061338.1:p.Ser613=