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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_000002.12:g.240877960_240877961insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT , CM000664.2:g.240877960_240877961insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT
GRCh38
NC_000002.11:g.241817377_241817378insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT , CM000664.1:g.241817377_241817378insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT
GRCh37
NC_000002.10:g.241466050_241466051insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT
NCBI36
NG_008005.1:g.14216_14217insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307503.4:c.943-62_943-61insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT
MANE Select
ENSP00000302620.3:n.943-62_943-61insCCTACAACATGACCTCCTACGTGGT...
ENST00000307503.3:c.943-62_943-61insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT
ENSP00000302620.3:n.943-62_943-61insCCTACAACATGACCTCCTACGTGGT...
ENST00000470255.1:n.721-62_721-61insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT
NM_000030.2:c.943-62_943-61insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT
NP_000021.1:n.943-62_943-61insCCTACAACATGACCTCCTACGTGGTTGCCGG...
NM_000030.3:c.943-62_943-61insCCTACAACATGACCTCCTACGTGGTTGCCGGCCT
MANE Select
NP_000021.1:n.943-62_943-61insCCTACAACATGACCTCCTACGTGGTTGCCGG...