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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_000011.10:g.22625441_22625468delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG , CM000673.2:g.22625441_22625468delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG
GRCh38
NC_000011.9:g.22646987_22647014delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG , CM000673.1:g.22646987_22647014delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG
GRCh37
NC_000011.8:g.22603563_22603590delinsCGTCCCGGACGCCCGGGCCGGGAAAGAG
NCBI36
NG_007425.1:g.5374_5401delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG , LRG_527:g.5374_5401delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000327470.6:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG
MANE Select
ENSP00000330875.3:p.Leu115=
ENST00000327470.4:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG
ENSP00000330875.3:p.Leu115=
NM_022725.3:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG , LRG_527t1:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG
NP_073562.1:p.Leu115=
NM_022725.4:c.343_370delinsCTCTTTCCCGGCCCGGGCGTCCGGGACG
MANE Select
NP_073562.1:p.Leu115=