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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.74752112_74752113insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG , CM000677.2:g.74752112_74752113insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
GRCh38
NC_000015.9:g.75044453_75044454insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG , CM000677.1:g.75044453_75044454insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
GRCh37
NC_000015.8:g.72831506_72831507insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
NCBI36
NG_008431.1:g.34571_34572insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
NG_008431.2:g.34571_34572insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
NG_061543.1:g.8268_8269insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
MANE Select
ENSP00000342007.4:n.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGAC...
ENST00000343932.4:c.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
ENSP00000342007.4:n.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGAC...
NM_000761.4:c.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
NP_000752.2:n.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGA...
NM_000761.5:c.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG
MANE Select
NP_000752.2:n.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGA...