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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_000022.11:g.21658386_21658414delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT , CM000684.2:g.21658386_21658414delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
GRCh38
NC_000022.10:g.22012675_22012703delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT , CM000684.1:g.22012675_22012703delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
GRCh37
NC_000022.9:g.20342675_20342703delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.283_286+25delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
ENST00000498589.1:n.463_491delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
XM_017029165.1:c.598_626delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
XP_016884654.1:p.Arg200=
NR_169729.1:n.1198_1226delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
NR_169730.1:n.1101_1129delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
NR_169731.1:n.432-2451_432-2423delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
NR_169732.1:n.252_280delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
NR_169733.1:n.310_338delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT
NR_169734.1:n.334_362delinsCGGGGCGAGGATCAACCTCTCCCCGTGCT