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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_000018.10:g.26855660del , CM000680.2:g.26855660del
GRCh38
NC_000018.9:g.24435624del , CM000680.1:g.24435624del
GRCh37
NC_000018.8:g.22689622del
NCBI36
NG_029560.1:g.15094del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000383168.9:c.*552del
MANE Select
ENSP00000372654.4:n.*552del
ENST00000672188.1:c.*552del
ENSP00000500720.1:n.*552del
ENST00000672981.2:c.*465del
ENSP00000500598.2:n.*465del
ENST00000383168.8:c.*552del
ENSP00000372654.4:n.*552del
NM_001650.4:c.*552del
NP_001641.1:n.*552del
NM_004028.3:c.*552del
NP_004019.1:n.*552del
XM_011525942.1:c.*552del
XP_011524244.1:n.*552del
NM_001317384.2:c.*465del
NP_001304313.1:n.*465del
NM_001317387.2:c.*552del
NP_001304316.1:n.*552del
NM_001364286.1:c.*552del
NP_001351215.1:n.*552del
NM_001364287.1:c.*465del
NP_001351216.1:n.*465del
NM_001364289.1:c.*465del
NP_001351218.1:n.*465del
NM_001650.6:c.*552del
NP_001641.1:n.*552del
NM_004028.4:c.*552del
NP_004019.1:n.*552del
XM_011525942.3:c.*552del
XP_011524244.1:n.*552del
NM_001650.7:c.*552del
MANE Select
NP_001641.1:n.*552del
NM_001317384.3:c.*465del
NP_001304313.1:n.*465del
NM_001317387.3:c.*552del
NP_001304316.1:n.*552del
NM_001364289.2:c.*465del
NP_001351218.1:n.*465del
NM_004028.5:c.*552del
NP_004019.1:n.*552del