Canonical Allele Identifier: CA542924018

Gene: ITIH1

Linked Data

• dbSNP Id: rs1559464546
• gnomAD v2: 3-52820953-GA-G
• gnomAD v4: 3-52786937-GA-G
• MyVariant Identifiers: chr3:g.52820954del (hg19) ; chr3:g.52786938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786939del , CM000665.2:g.52786939del	GRCh38
NC_000003.11:g.52820955del , CM000665.1:g.52820955del	GRCh37
NC_000003.10:g.52795995del	NCBI36
NG_016005.1:g.14348del

Transcript Alleles

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