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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_000007.14:g.19117057_19117081delinsCGCCCGCGCCGCCGCCGCCGCCACA , CM000669.2:g.19117057_19117081delinsCGCCCGCGCCGCCGCCGCCGCCACA
GRCh38
NC_000007.13:g.19156680_19156704delinsCGCCCGCGCCGCCGCCGCCGCCACA , CM000669.1:g.19156680_19156704delinsCGCCCGCGCCGCCGCCGCCGCCACA
GRCh37
NC_000007.12:g.19123205_19123229delinsCGCCCGCGCCGCCGCCGCCGCCACA
NCBI36
NG_008114.1:g.5592_5616delinsTGTGGCGGCGGCGGCGGCGCGGGCG
NG_008114.2:g.5592_5616delinsTGTGGCGGCGGCGGCGGCGCGGGCG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242261.6:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG
MANE Select
ENSP00000242261.5:p.Cys81=
ENST00000242261.5:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG
ENSP00000242261.5:p.Cys81=
ENST00000354571.5:c.38_62delinsTGTGGCGGCGGCGGCGGCGCGGGCG
NM_000474.3:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG
NP_000465.1:p.Cys81=
XM_011515496.1:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG
XP_011513798.1:p.Cys81=
NR_149001.1:n.592_616delinsTGTGGCGGCGGCGGCGGCGCGGGCG
NM_000474.4:c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG
MANE Select
NP_000465.1:p.Cys81=
NR_149001.2:n.556_580delinsTGTGGCGGCGGCGGCGGCGCGGGCG