Canonical Allele Identifier: CA2661808350

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168996688-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168996691del , CM000664.2:g.168996691del	GRCh38
NC_000002.11:g.169853201del , CM000664.1:g.169853201del	GRCh37
NC_000002.10:g.169561447del	NCBI36
NG_007374.1:g.39635del
NG_007374.2:g.39708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650372.1:c.423del MANE Select	ENSP00000497931.1:p.Phe141LeufsTer?
ENST00000263817.6:c.423del	ENSP00000263817.6:p.Phe141LeufsTer?
NM_003742.2:c.423del	NP_003733.2:p.Phe141LeufsTer?
XM_006712817.2:c.465del	XP_006712880.1:p.Phe155LeufsTer?
XM_011512077.1:c.525del	XP_011510379.1:p.Phe175LeufsTer?
XM_011512078.1:c.525del	XP_011510380.1:p.Phe175LeufsTer?
XM_011512079.1:c.525del	XP_011510381.1:p.Phe175LeufsTer?
XM_011512080.1:c.525del	XP_011510382.1:p.Phe175LeufsTer?
NM_003742.4:c.423del MANE Select	NP_003733.2:p.Phe141LeufsTer?
XM_006712817.3:c.465del	XP_006712880.1:p.Phe155LeufsTer?
XM_011512077.2:c.525del	XP_011510379.1:p.Phe175LeufsTer?
XM_011512078.2:c.525del	XP_011510380.1:p.Phe175LeufsTer?
XM_011512080.2:c.525del	XP_011510382.1:p.Phe175LeufsTer?
XM_017005165.1:c.525del	XP_016860654.1:p.Phe175LeufsTer?