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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA626217901
Gene: HCRT
HGNC
NCBI
Linked Data
dbSNP Id:
rs747632842
gnomAD v2:
17-40336500-GGCAGCAGCA-G
gnomAD v4:
17-42184482-GGCAGCAGCA-G
MyVariant Identifiers:
chr17:g.40336501_40336509del (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42184496_42184504del , CM000679.2:g.42184496_42184504del
GRCh38
NC_000017.10:g.40336514_40336522del , CM000679.1:g.40336514_40336522del
GRCh37
NC_000017.9:g.37590040_37590048del
NCBI36
NG_011448.1:g.5962_5970del
Transcript Alleles
HGVS
Amino-acid change
ENST00000293330.1:c.59_67del
MANE Select
ENSP00000293330.1:p.Leu20_Leu22del
NM_001524.1:c.59_67del
MANE Select
NP_001515.1:p.Leu20_Leu22del
Search 100 bp 5'
Search 100 bp 3'