Canonical Allele Identifier: CA2577788532

Gene: ITIH1

Linked Data

• gnomAD v4: 3-52786848-G-GAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786851_52786852insAAAT , CM000665.2:g.52786851_52786852insAAAT	GRCh38
NC_000003.11:g.52820867_52820868insAAAT , CM000665.1:g.52820867_52820868insAAAT	GRCh37
NC_000003.10:g.52795907_52795908insAAAT	NCBI36
NG_016005.1:g.14260_14261insAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273283.7:c.1734-94_1734-93insAAAT MANE Select	ENSP00000273283.2:n.1734-94_1734-93insAAAT
ENST00000273283.6:c.1734-94_1734-93insAAAT	ENSP00000273283.2:n.1734-94_1734-93insAAAT
ENST00000428133.5:c.393-94_393-93insAAAT	ENSP00000395836.1:n.393-94_393-93insAAAT
ENST00000537050.5:c.870-94_870-93insAAAT	ENSP00000443847.1:n.870-94_870-93insAAAT
ENST00000628722.2:n.1589-94_1589-93insAAAT
NM_001166434.2:c.1308-94_1308-93insAAAT	NP_001159906.1:n.1308-94_1308-93insAAAT
NM_001166435.2:c.870-94_870-93insAAAT	NP_001159907.1:n.870-94_870-93insAAAT
NM_001166436.2:c.870-94_870-93insAAAT	NP_001159908.1:n.870-94_870-93insAAAT
NM_002215.3:c.1734-94_1734-93insAAAT	NP_002206.2:n.1734-94_1734-93insAAAT
NM_002215.4:c.1734-94_1734-93insAAAT MANE Select	NP_002206.2:n.1734-94_1734-93insAAAT
NM_001166434.3:c.1308-94_1308-93insAAAT	NP_001159906.1:n.1308-94_1308-93insAAAT