×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1065114878
Gene: DSPP
HGNC
NCBI
Linked Data
dbSNP Id:
rs36228864
gnomAD v3:
4-87612011-T-TTGTGTGTGTG
gnomAD v4:
4-87612011-T-TTGTGTGTGTG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612032_87612041dup , CM000666.2:g.87612032_87612041dup
GRCh38
NC_000004.11:g.88533184_88533193dup , CM000666.1:g.88533184_88533193dup
GRCh37
NC_000004.10:g.88752208_88752217dup
NCBI36
NG_011595.1:g.8504_8513dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-73_52-64dup
MANE Select
ENSP00000498766.1:n.52-73_52-64dup
ENST00000282478.7:c.52-73_52-64dup
ENSP00000282478.7:n.52-73_52-64dup
ENST00000399271.5:c.52-73_52-64dup
ENSP00000382213.1:n.52-73_52-64dup
NM_014208.3:c.52-73_52-64dup
MANE Select
NP_055023.2:n.52-73_52-64dup
Search 100 bp 5'
Search 100 bp 3'