Canonical Allele Identifier: CA2683598162

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402269-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402271del , CM000669.2:g.87402271del	GRCh38
NC_000007.13:g.87031587del , CM000669.1:g.87031587del	GRCh37
NC_000007.12:g.86869523del	NCBI36
NG_007118.1:g.83163del
NG_007118.2:g.83163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3666del	ENSP00000352135.3:p.Gly1223AlafsTer6
ENST00000649586.2:c.3666del MANE Select	ENSP00000496956.2:p.Gly1223AlafsTer6
ENST00000265723.8:c.3687del	ENSP00000265723.4:p.Gly1230AlafsTer6
ENST00000358400.7:c.3525del	ENSP00000351172.3:p.Gly1176AlafsTer6
ENST00000359206.7:c.3666del	ENSP00000352135.3:p.Gly1223AlafsTer6
ENST00000440025.1:c.100del
ENST00000453593.5:c.3525del	ENSP00000392983.1:p.Gly1176AlafsTer6
ENST00000467983.1:n.278del
NM_000443.3:c.3666del	NP_000434.1:p.Gly1223AlafsTer6
NM_018849.2:c.3687del	NP_061337.1:p.Gly1230AlafsTer6
NM_018850.2:c.3525del	NP_061338.1:p.Gly1176AlafsTer6
XM_011516308.1:c.3687del	XP_011514610.1:p.Gly1230AlafsTer6
XM_011516309.1:c.3666del	XP_011514611.1:p.Gly1223AlafsTer6
XM_011516310.1:c.3582del	XP_011514612.1:p.Gly1195AlafsTer6
XM_011516311.1:c.3558del	XP_011514613.1:p.Gly1187AlafsTer6
XM_011516312.1:c.3546del	XP_011514614.1:p.Gly1183AlafsTer6
XM_011516313.1:c.3525del	XP_011514615.1:p.Gly1176AlafsTer6
XM_011516314.1:c.3708del	XP_011514616.1:p.Gly1237AlafsTer6
XM_011516315.1:c.3027del	XP_011514617.1:p.Gly1010AlafsTer6
XM_011516308.3:c.3957del	XP_011514610.3:p.Gly1320AlafsTer6
XM_011516309.3:c.3936del	XP_011514611.3:p.Gly1313AlafsTer6
XM_011516310.3:c.3852del	XP_011514612.3:p.Gly1285AlafsTer6
XM_011516311.3:c.3828del	XP_011514613.3:p.Gly1277AlafsTer6
XM_011516312.3:c.3816del	XP_011514614.3:p.Gly1273AlafsTer6
XM_011516313.3:c.3795del	XP_011514615.2:p.Gly1266AlafsTer6
XM_011516315.3:c.3027del	XP_011514617.2:p.Gly1010AlafsTer6
XM_017012323.2:c.3687del	XP_016867812.1:p.Gly1230AlafsTer6
XR_001744809.2:n.4195del
NM_000443.4:c.3666del MANE Select	NP_000434.1:p.Gly1223AlafsTer6
NM_018849.3:c.3687del	NP_061337.1:p.Gly1230AlafsTer6
NM_018850.3:c.3525del	NP_061338.1:p.Gly1176AlafsTer6