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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.180603180del , CM000667.2:g.180603180del
GRCh38
NC_000005.9:g.180030180del , CM000667.1:g.180030180del
GRCh37
NC_000005.8:g.179962786del
NCBI36
NG_011536.1:g.51445del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261937.11:c.*12del
MANE Select
ENSP00000261937.6:n.*12del
ENST00000261937.10:c.*12del
ENSP00000261937.6:n.*12del
ENST00000502603.5:n.804del
NM_182925.4:c.*12del
NP_891555.2:n.*12del
XM_011534477.1:c.*12del
XP_011532779.1:n.*12del
XM_011534478.1:c.*12del
XP_011532780.1:n.*12del
XM_011534482.1:c.*12del
XP_011532784.1:n.*12del
XM_011534483.1:c.*12del
XP_011532785.1:n.*12del
XM_011534484.1:c.*12del
XP_011532786.1:n.*12del
XR_941095.1:n.4390del
XM_011534478.3:c.*12del
XP_011532780.1:n.*12del
XM_011534484.2:c.*12del
XP_011532786.1:n.*12del
XM_017009263.1:c.*250del
XP_016864752.1:n.*250del
XM_017009268.1:c.*12del
XP_016864757.1:n.*12del
XR_001742050.2:n.4594del
NM_182925.5:c.*12del
MANE Select
NP_891555.2:n.*12del