Canonical Allele Identifier: CA2637931006
Gene: HCRT HGNC NCBI

Linked Data

gnomAD v4: 17-42184482-GGCAGCAGCAGCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184493_42184504del , CM000679.2:g.42184493_42184504del GRCh38
NC_000017.10:g.40336511_40336522del , CM000679.1:g.40336511_40336522del GRCh37
NC_000017.9:g.37590037_37590048del NCBI36
NG_011448.1:g.5959_5970del

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.56_67del MANE Select ENSP00000293330.1:p.Leu19_Leu22del
NM_001524.1:c.56_67del MANE Select NP_001515.1:p.Leu19_Leu22del
Search 100 bp 5'
Search 100 bp 3'