Canonical Allele Identifier: CA1365020077

Gene: ITIH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52783595_52783596delinsGC , CM000665.2:g.52783595_52783596delinsGC	GRCh38
NC_000003.11:g.52817611_52817612delinsGC , CM000665.1:g.52817611_52817612delinsGC	GRCh37
NC_000003.10:g.52792651_52792652delinsGC	NCBI36
NG_016005.1:g.11004_11005delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273283.7:c.1225+256_1225+257delinsGC MANE Select	ENSP00000273283.2:n.1225+256_1225+257delinsGC
ENST00000273283.6:c.1225+256_1225+257delinsGC	ENSP00000273283.2:n.1225+256_1225+257delinsGC
ENST00000537050.5:c.361+256_361+257delinsGC	ENSP00000443847.1:n.361+256_361+257delinsGC
ENST00000628722.2:n.1080+256_1080+257delinsGC
NM_001166434.2:c.799+256_799+257delinsGC	NP_001159906.1:n.799+256_799+257delinsGC
NM_001166435.2:c.361+256_361+257delinsGC	NP_001159907.1:n.361+256_361+257delinsGC
NM_001166436.2:c.361+256_361+257delinsGC	NP_001159908.1:n.361+256_361+257delinsGC
NM_002215.3:c.1225+256_1225+257delinsGC	NP_002206.2:n.1225+256_1225+257delinsGC
NM_002215.4:c.1225+256_1225+257delinsGC MANE Select	NP_002206.2:n.1225+256_1225+257delinsGC
NM_001166434.3:c.799+256_799+257delinsGC	NP_001159906.1:n.799+256_799+257delinsGC