Canonical Allele Identifier: CA983804178
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs1786089708
gnomAD v3: 17-42184493-C-CAGCAGCAGCAGT
gnomAD v4: 17-42184493-C-CAGCAGCAGCAGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184497_42184508dup , CM000679.2:g.42184497_42184508dup GRCh38
NC_000017.10:g.40336515_40336526dup , CM000679.1:g.40336515_40336526dup GRCh37
NC_000017.9:g.37590041_37590052dup NCBI36
NG_011448.1:g.5948_5959dup

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.45_56dup MANE Select ENSP00000293330.1:p.Leu19_Leu20insLeuLeuL...
NM_001524.1:c.45_56dup MANE Select NP_001515.1:p.Leu19_Leu20insLeuLeuLeuLeu
Search 100 bp 5'
Search 100 bp 3'