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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_000019.10:g.2251414_2251448delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA , CM000681.2:g.2251414_2251448delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
GRCh38
NC_000019.9:g.2251413_2251447delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA , CM000681.1:g.2251413_2251447delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
GRCh37
NC_000019.8:g.2202413_2202447delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
NCBI36
NG_012190.1:g.7301_7335delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
NG_032853.1:g.9976_10010delinsTTCGCAGCTCGGCAGCCGCCGCTTGCAGTTCAGCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000221496.5:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
MANE Select
ENSP00000221496.2:p.Ala380=
ENST00000221496.4:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
ENSP00000221496.2:p.Ala380=
ENST00000589313.2:n.1493_1527delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
NM_000479.3:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
NP_000470.2:p.Ala380=
NM_000479.4:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
NP_000470.2:p.Ala380=
NM_000479.5:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
MANE Select
NP_000470.3:p.Ala380=