Canonical Allele Identifier: CA2663195214
Gene: IHH HGNC NCBI

Linked Data

gnomAD v4: 2-219060456-GGCGGGAGACAT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060458_219060468del , CM000664.2:g.219060458_219060468del GRCh38
NC_000002.11:g.219925180_219925190del , CM000664.1:g.219925180_219925190del GRCh37
NC_000002.10:g.219633424_219633434del NCBI36
NG_016741.1:g.5050_5060del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.1_11del MANE Select ENSP00000295731.5:p.Met1ProfsTer?
NM_002181.3:c.1_11del NP_002172.2:p.Met1ProfsTer?
NM_002181.4:c.1_11del MANE Select NP_002172.2:p.Met1ProfsTer?
Search 100 bp 5'
Search 100 bp 3'