Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.135985818_135985855del , CM000685.2:g.135985818_135985855del	GRCh38
NC_000023.10:g.135067977_135068014del , CM000685.1:g.135067977_135068014del	GRCh37
NC_000023.9:g.134895643_134895680del	NCBI36
NG_017160.1:g.5392_5429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370695.8:c.316_325+28del
ENST00000370701.6:c.160_169+28del
ENST00000630721.3:c.160_169+28del
ENST00000636092.1:c.160_169+28del
ENST00000636347.1:c.160_169+28del
ENST00000637195.1:c.160_169+28del
ENST00000637234.1:c.160_169+28del
ENST00000637581.1:c.160_169+28del
ENST00000643775.1:n.103_112+28del
ENST00000674809.1:c.103_112+28del
ENST00000675550.1:n.101_110+28del
ENST00000675856.1:n.103_112+28del
ENST00000676043.1:c.103_112+28del
ENST00000678163.1:c.316_325+28del
ENST00000370695.6:c.316_325+28del
ENST00000370698.7:c.316_325+28del
ENST00000370701.5:c.160_169+28del
ENST00000627534.2:c.160_169+28del
NM_001042537.1:c.316_325+28del
NM_001177651.1:c.160_169+28del
NM_006359.2:c.316_325+28del
XM_006724726.2:c.160_169+28del
XM_011531243.1:c.160_169+28del
NM_001330652.1:c.160_169+28del
XM_006724726.3:c.160_169+28del
XM_017029223.2:c.160_169+28del
XM_017029224.1:c.160_169+28del
XM_017029225.1:c.160_169+28del
NM_001177651.2:c.160_169+28del
NM_001330652.2:c.160_169+28del
NM_006359.3:c.316_325+28del
NM_001042537.2:c.316_325+28del
NM_001379110.1:c.160_169+28del
NM_001400909.1:c.160_169+28del
NM_001400910.1:c.160_169+28del
NM_001400911.1:c.160_169+28del
NM_001400912.1:c.160_169+28del
NM_001400913.1:c.160_169+28del