Canonical Allele Identifier: CA2756280013

Gene: ITIH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786923_52786924insTGTCTCTTATACACATCTCG , CM000665.2:g.52786923_52786924insTGTCTCTTATACACATCTCG	GRCh38
NC_000003.11:g.52820939_52820940insTGTCTCTTATACACATCTCG , CM000665.1:g.52820939_52820940insTGTCTCTTATACACATCTCG	GRCh37
NC_000003.10:g.52795979_52795980insTGTCTCTTATACACATCTCG	NCBI36
NG_016005.1:g.14332_14333insTGTCTCTTATACACATCTCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000273283.7:c.1734-22_1734-21insTGTCTCTTATACACATCTCG MANE Select	ENSP00000273283.2:n.1734-22_1734-21insTGT...
ENST00000273283.6:c.1734-22_1734-21insTGTCTCTTATACACATCTCG	ENSP00000273283.2:n.1734-22_1734-21insTGT...
ENST00000428133.5:c.393-22_393-21insTGTCTCTTATACACATCTCG	ENSP00000395836.1:n.393-22_393-21insTGTCT...
ENST00000537050.5:c.870-22_870-21insTGTCTCTTATACACATCTCG	ENSP00000443847.1:n.870-22_870-21insTGTCT...
ENST00000628722.2:n.1589-22_1589-21insTGTCTCTTATACACATCTCG
NM_001166434.2:c.1308-22_1308-21insTGTCTCTTATACACATCTCG	NP_001159906.1:n.1308-22_1308-21insTGTCTC...
NM_001166435.2:c.870-22_870-21insTGTCTCTTATACACATCTCG	NP_001159907.1:n.870-22_870-21insTGTCTCTT...
NM_001166436.2:c.870-22_870-21insTGTCTCTTATACACATCTCG	NP_001159908.1:n.870-22_870-21insTGTCTCTT...
NM_002215.3:c.1734-22_1734-21insTGTCTCTTATACACATCTCG	NP_002206.2:n.1734-22_1734-21insTGTCTCTTA...
NM_002215.4:c.1734-22_1734-21insTGTCTCTTATACACATCTCG MANE Select	NP_002206.2:n.1734-22_1734-21insTGTCTCTTA...
NM_001166434.3:c.1308-22_1308-21insTGTCTCTTATACACATCTCG	NP_001159906.1:n.1308-22_1308-21insTGTCTC...