Canonical Allele Identifier: CA626217902
Gene: HCRT HGNC NCBI

Linked Data

dbSNP Id: rs747632842
gnomAD v2: 17-40336500-G-GGCAGCAGCA
gnomAD v3: 17-42184482-G-GGCAGCAGCA
gnomAD v4: 17-42184482-G-GGCAGCAGCA
MyVariant Identifiers: chr17:g.40336506_40336507insGCAGCAGCA (hg19) chr17:g.40336500_40336501insGCAGCAGCA (hg19) chr17:g.42184488_42184489insGCAGCAGCA (hg38) chr17:g.42184482_42184483insGCAGCAGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42184496_42184504dup , CM000679.2:g.42184496_42184504dup GRCh38
NC_000017.10:g.40336514_40336522dup , CM000679.1:g.40336514_40336522dup GRCh37
NC_000017.9:g.37590040_37590048dup NCBI36
NG_011448.1:g.5962_5970dup

Transcript Alleles

HGVS Amino-acid change
ENST00000293330.1:c.59_67dup MANE Select ENSP00000293330.1:p.Leu22_Pro23insLeuLeuL...
NM_001524.1:c.59_67dup MANE Select NP_001515.1:p.Leu22_Pro23insLeuLeuLeu
Search 100 bp 5'
Search 100 bp 3'