Canonical Allele Identifier: CA236217092

Gene: HIGD1C SLC11A2

Linked Data

• dbSNP Id: rs896147664
• gnomAD v3: 12-50963686-CTG-C
• gnomAD v4: 12-50963686-CTG-C
• MyVariant Identifiers: chr12:g.51357470_51357471del (hg19) ; chr12:g.50963687_50963688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50963688_50963689del , CM000674.2:g.50963688_50963689del	GRCh38
NC_000012.11:g.51357471_51357472del , CM000674.1:g.51357471_51357472del	GRCh37
NC_000012.10:g.49643738_49643739del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000695929.1:c.*534+2586_*534+2587del	ENSP00000512272.1:n.*534+2586_*534+2587de...
ENST00000695930.1:c.253+2586_253+2587del (HIGD1C)	ENSP00000512273.1:n.253+2586_253+2587del
ENST00000695931.1:c.229+2586_229+2587del (HIGD1C) MANE Select	ENSP00000512274.1:n.229+2586_229+2587del
ENST00000398455.3:c.229+2586_229+2587del (HIGD1C)	ENSP00000381473.3:n.229+2586_229+2587del
NM_001109619.1:c.229+2586_229+2587del (HIGD1C)	NP_001103089.1:n.229+2586_229+2587del
XM_011538648.1:c.544+2586_544+2587del (HIGD1C)	XP_011536950.1:n.544+2586_544+2587del
XM_011538649.1:c.229+2586_229+2587del (HIGD1C)	XP_011536951.1:n.229+2586_229+2587del
NM_001109619.2:c.229+2586_229+2587del (HIGD1C)	NP_001103089.1:n.229+2586_229+2587del
XM_011538649.2:c.229+2586_229+2587del (HIGD1C)	XP_011536951.1:n.229+2586_229+2587del
XM_017019783.2:c.373+2586_373+2587del (HIGD1C)	XP_016875272.1:n.373+2586_373+2587del
XM_017019784.2:c.373+2586_373+2587del (HIGD1C)	XP_016875273.1:n.373+2586_373+2587del
XM_017019785.1:c.253+2586_253+2587del (HIGD1C)	XP_016875274.1:n.253+2586_253+2587del
XR_001748720.1:n.1992-9880_1992-9879del (SLC11A2)
NM_001109619.3:c.229+2586_229+2587del (HIGD1C)	NP_001103089.1:n.229+2586_229+2587del
NM_001109619.4:c.229+2586_229+2587del (HIGD1C) MANE Select	NP_001103089.1:n.229+2586_229+2587del