Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36677880C>G , CM000668.2:g.36677880C>G	GRCh38
NC_000006.11:g.36645657C>G , CM000668.1:g.36645657C>G	GRCh37
NC_000006.10:g.36753635C>G	NCBI36
NG_009364.1:g.4199C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000448526.6:c.-37-22C>G (CDKN1A)	ENSP00000409259.3:n.-37-22C>G
ENST00000459970.1:n.136C>G (CDKN1A)
ENST00000615513.4:c.-6+1356C>G (CDKN1A)	ENSP00000482768.1:n.-6+1356C>G
NM_001220777.1:c.-6+1356C>G (CDKN1A)	NP_001207706.1:n.-6+1356C>G
NM_001291549.1:c.44C>G (CDKN1A)	NP_001278478.1:p.Pro15Arg
NM_078467.2:c.-37-22C>G (CDKN1A)	NP_510867.1:n.-37-22C>G
NR_144384.1:n.680G>C (DINOL)
NM_001220777.2:c.-6+1356C>G (CDKN1A)	NP_001207706.1:n.-6+1356C>G
NM_001291549.3:c.44C>G (CDKN1A)	NP_001278478.1:p.Pro15Arg
NM_001374509.1:c.44C>G (CDKN1A)	NP_001361438.1:p.Pro15Arg
NM_001374510.1:c.34+1310C>G (CDKN1A)	NP_001361439.1:n.34+1310C>G
NM_078467.3:c.-37-22C>G (CDKN1A)	NP_510867.1:n.-37-22C>G