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_000010.11:g.16828722_16828728delinsTAAAAAA , CM000672.2:g.16828722_16828728delinsTAAAAAA	GRCh38
NC_000010.10:g.16870721_16870727delinsTAAAAAA , CM000672.1:g.16870721_16870727delinsTAAAAAA	GRCh37
NC_000010.9:g.16910727_16910733delinsTAAAAAA	NCBI36
NG_008967.1:g.306090_306096delinsTTTTTTA , LRG_540:g.306090_306096delinsTTTTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000377833.10:c.10764+77_10764+83delinsTTTTTTA MANE Select	ENSP00000367064.4:n.10764+77_10764+83deli...
ENST00000377833.8:c.10764+77_10764+83delinsTTTTTTA	ENSP00000367064.4:n.10764+77_10764+83deli...
NM_001081.3:c.10764+77_10764+83delinsTTTTTTA , LRG_540t1:c.10764+77_10764+83delinsTTTTTTA	NP_001072.2:n.10764+77_10764+83delinsTTTT...
XM_011519709.1:c.6750+77_6750+83delinsTTTTTTA	XP_011518011.1:n.6750+77_6750+83delinsTTT...
XM_011519710.1:c.6726+77_6726+83delinsTTTTTTA	XP_011518012.1:n.6726+77_6726+83delinsTTT...
XM_011519711.1:c.6606+77_6606+83delinsTTTTTTA	XP_011518013.1:n.6606+77_6606+83delinsTTT...
XM_011519709.2:c.6750+77_6750+83delinsTTTTTTA	XP_011518011.1:n.6750+77_6750+83delinsTTT...
XM_011519710.2:c.6726+77_6726+83delinsTTTTTTA	XP_011518012.1:n.6726+77_6726+83delinsTTT...
XM_011519711.3:c.6606+77_6606+83delinsTTTTTTA	XP_011518013.1:n.6606+77_6606+83delinsTTT...
NM_001081.4:c.10764+77_10764+83delinsTTTTTTA MANE Select	NP_001072.2:n.10764+77_10764+83delinsTTTT...