Canonical Allele Identifier: CA1365021695

Gene: ITIH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786906_52786914delinsCAAGTCGGG , CM000665.2:g.52786906_52786914delinsCAAGTCGGG	GRCh38
NC_000003.11:g.52820922_52820930delinsCAAGTCGGG , CM000665.1:g.52820922_52820930delinsCAAGTCGGG	GRCh37
NC_000003.10:g.52795962_52795970delinsCAAGTCGGG	NCBI36
NG_016005.1:g.14315_14323delinsCAAGTCGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1734-39_1734-31delinsCAAGTCGGG MANE Select	ENSP00000273283.2:n.1734-39_1734-31delins...
ENST00000273283.6:c.1734-39_1734-31delinsCAAGTCGGG	ENSP00000273283.2:n.1734-39_1734-31delins...
ENST00000428133.5:c.393-39_393-31delinsCAAGTCGGG	ENSP00000395836.1:n.393-39_393-31delinsCA...
ENST00000537050.5:c.870-39_870-31delinsCAAGTCGGG	ENSP00000443847.1:n.870-39_870-31delinsCA...
ENST00000628722.2:n.1589-39_1589-31delinsCAAGTCGGG
NM_001166434.2:c.1308-39_1308-31delinsCAAGTCGGG	NP_001159906.1:n.1308-39_1308-31delinsCAA...
NM_001166435.2:c.870-39_870-31delinsCAAGTCGGG	NP_001159907.1:n.870-39_870-31delinsCAAGT...
NM_001166436.2:c.870-39_870-31delinsCAAGTCGGG	NP_001159908.1:n.870-39_870-31delinsCAAGT...
NM_002215.3:c.1734-39_1734-31delinsCAAGTCGGG	NP_002206.2:n.1734-39_1734-31delinsCAAGTC...
NM_002215.4:c.1734-39_1734-31delinsCAAGTCGGG MANE Select	NP_002206.2:n.1734-39_1734-31delinsCAAGTC...
NM_001166434.3:c.1308-39_1308-31delinsCAAGTCGGG	NP_001159906.1:n.1308-39_1308-31delinsCAA...