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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:
CA556385178
Gene: NPY1R
HGNC
NCBI
Linked Data
dbSNP Id:
rs1178157517
gnomAD v2:
4-164245738-GT-G
gnomAD v3:
4-163324586-GT-G
gnomAD v4:
4-163324586-GT-G
MyVariant Identifiers:
chr4:g.164245739del (hg19)
chr4:g.163324587del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.163324590del , CM000666.2:g.163324590del
GRCh38
NC_000004.11:g.164245742del , CM000666.1:g.164245742del
GRCh37
NC_000004.10:g.164465192del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000296533.3:c.*716del
MANE Select
ENSP00000354652.2:n.*716del
ENST00000296533.2:c.*716del
ENSP00000354652.2:n.*716del
NM_000909.5:c.*716del
NP_000900.1:n.*716del
XM_005263031.2:c.*716del
XP_005263088.1:n.*716del
XM_011532010.1:c.*716del
XP_011530312.1:n.*716del
XM_005263031.4:c.*716del
XP_005263088.1:n.*716del
XM_011532010.3:c.*716del
XP_011530312.1:n.*716del
NM_000909.6:c.*716del
MANE Select
NP_000900.1:n.*716del
Search 100 bp 5'
Search 100 bp 3'