Canonical Allele Identifier: CA1365021649

Gene: ITIH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786838_52786842delinsTCGAA , CM000665.2:g.52786838_52786842delinsTCGAA	GRCh38
NC_000003.11:g.52820854_52820858delinsTCGAA , CM000665.1:g.52820854_52820858delinsTCGAA	GRCh37
NC_000003.10:g.52795894_52795898delinsTCGAA	NCBI36
NG_016005.1:g.14247_14251delinsTCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273283.7:c.1734-107_1734-103delinsTCGAA MANE Select	ENSP00000273283.2:n.1734-107_1734-103delinsTCGAA
ENST00000273283.6:c.1734-107_1734-103delinsTCGAA	ENSP00000273283.2:n.1734-107_1734-103delinsTCGAA
ENST00000428133.5:c.393-107_393-103delinsTCGAA	ENSP00000395836.1:n.393-107_393-103delinsTCGAA
ENST00000537050.5:c.870-107_870-103delinsTCGAA	ENSP00000443847.1:n.870-107_870-103delinsTCGAA
ENST00000628722.2:n.1589-107_1589-103delinsTCGAA
NM_001166434.2:c.1308-107_1308-103delinsTCGAA	NP_001159906.1:n.1308-107_1308-103delinsTCGAA
NM_001166435.2:c.870-107_870-103delinsTCGAA	NP_001159907.1:n.870-107_870-103delinsTCGAA
NM_001166436.2:c.870-107_870-103delinsTCGAA	NP_001159908.1:n.870-107_870-103delinsTCGAA
NM_002215.3:c.1734-107_1734-103delinsTCGAA	NP_002206.2:n.1734-107_1734-103delinsTCGAA
NM_002215.4:c.1734-107_1734-103delinsTCGAA MANE Select	NP_002206.2:n.1734-107_1734-103delinsTCGAA
NM_001166434.3:c.1308-107_1308-103delinsTCGAA	NP_001159906.1:n.1308-107_1308-103delinsTCGAA