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_000017.11:g.7224071_7224146del , CM000679.2:g.7224071_7224146del	GRCh38
NC_000017.10:g.7127390_7127465del , CM000679.1:g.7127390_7127465del	GRCh37
NC_000017.9:g.7068114_7068189del	NCBI36
NG_007975.1:g.9238_9313del
NG_008391.2:g.907_982del
NG_033038.1:g.15401_15476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1434+2_1435del
ENST00000322910.9:c.1389+2_1390del
ENST00000350303.9:c.1368+2_1369del
ENST00000356839.9:c.1434+2_1435del
ENST00000542255.6:c.292+2_293del
ENST00000543245.6:c.1503+2_1504del
ENST00000578711.1:n.567_642del
ENST00000579425.5:n.550+2_551del
ENST00000579546.1:c.271+2_271+77del
ENST00000579894.5:n.147_222del
ENST00000583074.5:n.153+2_153+77del
ENST00000583850.5:n.209+2_210del
ENST00000583858.5:c.463+2_463+77del
ENST00000585203.6:n.625+2_626del
NM_000018.3:c.1434+2_1435del
NM_001033859.2:c.1368+2_1369del
NM_001270447.1:c.1503+2_1504del
NM_001270448.1:c.1206+2_1207del
XM_006721516.2:c.1434+2_1435del
XM_011523829.1:c.1434+2_1434+77del
XM_011523830.1:c.1434+2_1434+77del
XR_934021.1:n.1541+2_1542del
XR_934022.1:n.1541+2_1541+77del
XR_934023.1:n.1541+2_1541+77del
XM_006721516.3:c.1434+2_1435del
XM_011523829.2:c.1434+2_1434+77del
XM_011523830.2:c.1434+2_1434+77del
XM_024450741.1:c.1434+2_1434+77del
XR_934021.2:n.1493+2_1494del
XR_934022.2:n.1493+2_1493+77del
XR_934023.2:n.1493+2_1493+77del
NM_000018.4:c.1434+2_1435del
NM_001033859.3:c.1368+2_1369del
NM_001270447.2:c.1503+2_1504del
NM_001270448.2:c.1206+2_1207del