×
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:
CA885313431
Gene: AKNAD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1292505884
MyVariant Identifiers:
chr1:g.109417715_109417716insT (hg19)
chr1:g.108875093_108875094insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.108875094dup , CM000663.2:g.108875094dup
GRCh38
NC_000001.10:g.109417716dup , CM000663.1:g.109417716dup
GRCh37
NC_000001.9:g.109219239dup
NCBI36
NG_028108.1:g.3114dup
NG_028108.2:g.4745dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357393.6:c.1-25518dup
ENSP00000349968.6:n.1-25518dup
ENST00000357393.5:c.115-25518dup
ENSP00000349968.5:n.115-25518dup
XR_001738178.1:n.103+46dup
Search 100 bp 5'
Search 100 bp 3'