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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:
CA8573268
Gene: HCRT
HGNC
NCBI
Linked Data
dbSNP Id:
rs747632842
ExAC:
17:40336500 GGCA / G
gnomAD v2:
17-40336500-GGCA-G
gnomAD v3:
17-42184482-GGCA-G
gnomAD v4:
17-42184482-GGCA-G
COSMIC:
COSM302351
COSM5030758
MyVariant Identifiers:
chr17:g.40336507_40336509del (hg19)
chr17:g.40336504_40336506del (hg19)
chr17:g.40336501_40336503del (hg19)
chr17:g.42184486_42184488del (hg38)
chr17:g.42184483_42184485del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42184502_42184504del , CM000679.2:g.42184502_42184504del
GRCh38
NC_000017.10:g.40336520_40336522del , CM000679.1:g.40336520_40336522del
GRCh37
NC_000017.9:g.37590046_37590048del
NCBI36
NG_011448.1:g.5968_5970del
Transcript Alleles
HGVS
Amino-acid change
ENST00000293330.1:c.65_67del
MANE Select
ENSP00000293330.1:p.Leu22del
NM_001524.1:c.65_67del
MANE Select
NP_001515.1:p.Leu22del
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