Canonical Allele Identifier: CA843386374

Gene: ABCB4

Linked Data

• dbSNP Id: rs1406769284
• gnomAD v3: 7-87417241-GATAA-G
• gnomAD v4: 7-87417241-GATAA-G
• MyVariant Identifiers: chr7:g.87046558_87046561del (hg19) ; chr7:g.87417242_87417245del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417246_87417249del , CM000669.2:g.87417246_87417249del	GRCh38
NC_000007.13:g.87046562_87046565del , CM000669.1:g.87046562_87046565del	GRCh37
NC_000007.12:g.86884498_86884501del	NCBI36
NG_007118.1:g.68188_68191del
NG_007118.2:g.68188_68191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2682+67_2682+70del	ENSP00000352135.3:n.2682+67_2682+70del
ENST00000649586.2:c.2682+67_2682+70del MANE Select	ENSP00000496956.2:n.2682+67_2682+70del
ENST00000265723.8:c.2682+67_2682+70del	ENSP00000265723.4:n.2682+67_2682+70del
ENST00000358400.7:c.2682+67_2682+70del	ENSP00000351172.3:n.2682+67_2682+70del
ENST00000359206.7:c.2682+67_2682+70del	ENSP00000352135.3:n.2682+67_2682+70del
ENST00000453593.5:c.2682+67_2682+70del	ENSP00000392983.1:n.2682+67_2682+70del
NM_000443.3:c.2682+67_2682+70del	NP_000434.1:n.2682+67_2682+70del
NM_018849.2:c.2682+67_2682+70del	NP_061337.1:n.2682+67_2682+70del
NM_018850.2:c.2682+67_2682+70del	NP_061338.1:n.2682+67_2682+70del
XM_011516308.1:c.2682+67_2682+70del	XP_011514610.1:n.2682+67_2682+70del
XM_011516309.1:c.2682+67_2682+70del	XP_011514611.1:n.2682+67_2682+70del
XM_011516310.1:c.2577+67_2577+70del	XP_011514612.1:n.2577+67_2577+70del
XM_011516311.1:c.2682+67_2682+70del	XP_011514613.1:n.2682+67_2682+70del
XM_011516312.1:c.2682+67_2682+70del	XP_011514614.1:n.2682+67_2682+70del
XM_011516313.1:c.2682+67_2682+70del	XP_011514615.1:n.2682+67_2682+70del
XM_011516314.1:c.2703+67_2703+70del	XP_011514616.1:n.2703+67_2703+70del
XM_011516315.1:c.2022+67_2022+70del	XP_011514617.1:n.2022+67_2022+70del
XR_927478.1:n.2778+67_2778+70del
XM_011516308.3:c.2952+67_2952+70del	XP_011514610.3:n.2952+67_2952+70del
XM_011516309.3:c.2952+67_2952+70del	XP_011514611.3:n.2952+67_2952+70del
XM_011516310.3:c.2847+67_2847+70del	XP_011514612.3:n.2847+67_2847+70del
XM_011516311.3:c.2952+67_2952+70del	XP_011514613.3:n.2952+67_2952+70del
XM_011516312.3:c.2952+67_2952+70del	XP_011514614.3:n.2952+67_2952+70del
XM_011516313.3:c.2952+67_2952+70del	XP_011514615.2:n.2952+67_2952+70del
XM_011516315.3:c.2022+67_2022+70del	XP_011514617.2:n.2022+67_2022+70del
XM_017012323.2:c.2682+67_2682+70del	XP_016867812.1:n.2682+67_2682+70del
XR_001744809.2:n.3453+67_3453+70del
NM_000443.4:c.2682+67_2682+70del MANE Select	NP_000434.1:n.2682+67_2682+70del
NM_018849.3:c.2682+67_2682+70del	NP_061337.1:n.2682+67_2682+70del
NM_018850.3:c.2682+67_2682+70del	NP_061338.1:n.2682+67_2682+70del