Canonical Allele Identifier: CA4326965

Gene: ABCB4

Linked Data

• dbSNP Id: rs760375922
• ExAC: 7:87046579 CAT / C
• gnomAD v2: 7-87046579-CAT-C
• gnomAD v4: 7-87417263-CAT-C
• MyVariant Identifiers: chr7:g.87046580_87046581del (hg19) ; chr7:g.87417264_87417265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417264_87417265del , CM000669.2:g.87417264_87417265del	GRCh38
NC_000007.13:g.87046580_87046581del , CM000669.1:g.87046580_87046581del	GRCh37
NC_000007.12:g.86884516_86884517del	NCBI36
NG_007118.1:g.68168_68169del
NG_007118.2:g.68168_68169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2682+47_2682+48del	ENSP00000352135.3:n.2682+47_2682+48del
ENST00000649586.2:c.2682+47_2682+48del MANE Select	ENSP00000496956.2:n.2682+47_2682+48del
ENST00000265723.8:c.2682+47_2682+48del	ENSP00000265723.4:n.2682+47_2682+48del
ENST00000358400.7:c.2682+47_2682+48del	ENSP00000351172.3:n.2682+47_2682+48del
ENST00000359206.7:c.2682+47_2682+48del	ENSP00000352135.3:n.2682+47_2682+48del
ENST00000453593.5:c.2682+47_2682+48del	ENSP00000392983.1:n.2682+47_2682+48del
NM_000443.3:c.2682+47_2682+48del	NP_000434.1:n.2682+47_2682+48del
NM_018849.2:c.2682+47_2682+48del	NP_061337.1:n.2682+47_2682+48del
NM_018850.2:c.2682+47_2682+48del	NP_061338.1:n.2682+47_2682+48del
XM_011516308.1:c.2682+47_2682+48del	XP_011514610.1:n.2682+47_2682+48del
XM_011516309.1:c.2682+47_2682+48del	XP_011514611.1:n.2682+47_2682+48del
XM_011516310.1:c.2577+47_2577+48del	XP_011514612.1:n.2577+47_2577+48del
XM_011516311.1:c.2682+47_2682+48del	XP_011514613.1:n.2682+47_2682+48del
XM_011516312.1:c.2682+47_2682+48del	XP_011514614.1:n.2682+47_2682+48del
XM_011516313.1:c.2682+47_2682+48del	XP_011514615.1:n.2682+47_2682+48del
XM_011516314.1:c.2703+47_2703+48del	XP_011514616.1:n.2703+47_2703+48del
XM_011516315.1:c.2022+47_2022+48del	XP_011514617.1:n.2022+47_2022+48del
XR_927478.1:n.2778+47_2778+48del
XM_011516308.3:c.2952+47_2952+48del	XP_011514610.3:n.2952+47_2952+48del
XM_011516309.3:c.2952+47_2952+48del	XP_011514611.3:n.2952+47_2952+48del
XM_011516310.3:c.2847+47_2847+48del	XP_011514612.3:n.2847+47_2847+48del
XM_011516311.3:c.2952+47_2952+48del	XP_011514613.3:n.2952+47_2952+48del
XM_011516312.3:c.2952+47_2952+48del	XP_011514614.3:n.2952+47_2952+48del
XM_011516313.3:c.2952+47_2952+48del	XP_011514615.2:n.2952+47_2952+48del
XM_011516315.3:c.2022+47_2022+48del	XP_011514617.2:n.2022+47_2022+48del
XM_017012323.2:c.2682+47_2682+48del	XP_016867812.1:n.2682+47_2682+48del
XR_001744809.2:n.3453+47_3453+48del
NM_000443.4:c.2682+47_2682+48del MANE Select	NP_000434.1:n.2682+47_2682+48del
NM_018849.3:c.2682+47_2682+48del	NP_061337.1:n.2682+47_2682+48del
NM_018850.3:c.2682+47_2682+48del	NP_061338.1:n.2682+47_2682+48del