Canonical Allele Identifier: CA2683598158

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402187-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402191_87402192del , CM000669.2:g.87402191_87402192del	GRCh38
NC_000007.13:g.87031507_87031508del , CM000669.1:g.87031507_87031508del	GRCh37
NC_000007.12:g.86869443_86869444del	NCBI36
NG_007118.1:g.83244_83245del
NG_007118.2:g.83244_83245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3747_3748del	ENSP00000352135.3:p.Arg1249SerfsTer?
ENST00000649586.2:c.3747_3748del MANE Select	ENSP00000496956.2:p.Arg1249SerfsTer?
ENST00000265723.8:c.3768_3769del	ENSP00000265723.4:p.Arg1256SerfsTer?
ENST00000358400.7:c.3606_3607del	ENSP00000351172.3:p.Arg1202SerfsTer?
ENST00000359206.7:c.3747_3748del	ENSP00000352135.3:p.Arg1249SerfsTer?
ENST00000440025.1:c.181_182del
ENST00000453593.5:c.3606_3607del	ENSP00000392983.1:p.Arg1202SerfsTer?
ENST00000467983.1:n.359_360del
NM_000443.3:c.3747_3748del	NP_000434.1:p.Arg1249SerfsTer?
NM_018849.2:c.3768_3769del	NP_061337.1:p.Arg1256SerfsTer?
NM_018850.2:c.3606_3607del	NP_061338.1:p.Arg1202SerfsTer?
XM_011516308.1:c.3768_3769del	XP_011514610.1:p.Arg1256SerfsTer?
XM_011516309.1:c.3747_3748del	XP_011514611.1:p.Arg1249SerfsTer?
XM_011516310.1:c.3663_3664del	XP_011514612.1:p.Arg1221SerfsTer?
XM_011516311.1:c.3639_3640del	XP_011514613.1:p.Arg1213SerfsTer?
XM_011516312.1:c.3627_3628del	XP_011514614.1:p.Arg1209SerfsTer?
XM_011516313.1:c.3606_3607del	XP_011514615.1:p.Arg1202SerfsTer?
XM_011516314.1:c.3789_3790del	XP_011514616.1:p.Arg1263SerfsTer?
XM_011516315.1:c.3108_3109del	XP_011514617.1:p.Arg1036SerfsTer?
XM_011516308.3:c.4038_4039del	XP_011514610.3:p.Arg1346SerfsTer?
XM_011516309.3:c.4017_4018del	XP_011514611.3:p.Arg1339SerfsTer?
XM_011516310.3:c.3933_3934del	XP_011514612.3:p.Arg1311SerfsTer?
XM_011516311.3:c.3909_3910del	XP_011514613.3:p.Arg1303SerfsTer?
XM_011516312.3:c.3897_3898del	XP_011514614.3:p.Arg1299SerfsTer?
XM_011516313.3:c.3876_3877del	XP_011514615.2:p.Arg1292SerfsTer?
XM_011516315.3:c.3108_3109del	XP_011514617.2:p.Arg1036SerfsTer?
XM_017012323.2:c.3768_3769del	XP_016867812.1:p.Arg1256SerfsTer?
XR_001744809.2:n.4276_4277del
NM_000443.4:c.3747_3748del MANE Select	NP_000434.1:p.Arg1249SerfsTer?
NM_018849.3:c.3768_3769del	NP_061337.1:p.Arg1256SerfsTer?
NM_018850.3:c.3606_3607del	NP_061338.1:p.Arg1202SerfsTer?