Canonical Allele Identifier: CA1365021696

Gene: ITIH1

Linked Data

• dbSNP Id: rs1699218081
• gnomAD v4: 3-52786906-CAAGTCGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786907_52786914del , CM000665.2:g.52786907_52786914del	GRCh38
NC_000003.11:g.52820923_52820930del , CM000665.1:g.52820923_52820930del	GRCh37
NC_000003.10:g.52795963_52795970del	NCBI36
NG_016005.1:g.14316_14323del

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1734-38_1734-31del MANE Select	ENSP00000273283.2:n.1734-38_1734-31del
ENST00000273283.6:c.1734-38_1734-31del	ENSP00000273283.2:n.1734-38_1734-31del
ENST00000428133.5:c.393-38_393-31del	ENSP00000395836.1:n.393-38_393-31del
ENST00000537050.5:c.870-38_870-31del	ENSP00000443847.1:n.870-38_870-31del
ENST00000628722.2:n.1589-38_1589-31del
NM_001166434.2:c.1308-38_1308-31del	NP_001159906.1:n.1308-38_1308-31del
NM_001166435.2:c.870-38_870-31del	NP_001159907.1:n.870-38_870-31del
NM_001166436.2:c.870-38_870-31del	NP_001159908.1:n.870-38_870-31del
NM_002215.3:c.1734-38_1734-31del	NP_002206.2:n.1734-38_1734-31del
NM_002215.4:c.1734-38_1734-31del MANE Select	NP_002206.2:n.1734-38_1734-31del
NM_001166434.3:c.1308-38_1308-31del	NP_001159906.1:n.1308-38_1308-31del