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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_000015.10:g.74749705_74749706insATTTGATAAACACTGATGCGTGTTCTG , CM000677.2:g.74749705_74749706insATTTGATAAACACTGATGCGTGTTCTG
GRCh38
NC_000015.9:g.75042046_75042047insATTTGATAAACACTGATGCGTGTTCTG , CM000677.1:g.75042046_75042047insATTTGATAAACACTGATGCGTGTTCTG
GRCh37
NC_000015.8:g.72829099_72829100insATTTGATAAACACTGATGCGTGTTCTG
NCBI36
NG_008431.1:g.32164_32165insATTTGATAAACACTGATGCGTGTTCTG
NG_008431.2:g.32164_32165insATTTGATAAACACTGATGCGTGTTCTG
NG_061543.1:g.5861_5862insATTTGATAAACACTGATGCGTGTTCTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG
MANE Select
ENSP00000342007.4:n.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG...
ENST00000343932.4:c.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG
ENSP00000342007.4:n.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG...
NM_000761.4:c.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG
NP_000752.2:n.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG
NM_000761.5:c.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG
MANE Select
NP_000752.2:n.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG