×
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_000012.12:g.52487860_52487920delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC , CM000674.2:g.52487860_52487920delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC
GRCh38
NC_000012.11:g.52881644_52881704delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC , CM000674.1:g.52881644_52881704delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC
GRCh37
NC_000012.10:g.51167911_51167971delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC
NCBI36
NG_008298.1:g.10478_10538delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000330722.7:c.1495_1555delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA
MANE Select
ENSP00000369317.3:p.Gly499=
ENST00000330722.6:c.1495_1555delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA
ENSP00000369317.3:p.Gly499=
NM_005554.3:c.1495_1555delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA
NP_005545.1:p.Gly499=
NM_005554.4:c.1495_1555delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA
MANE Select
NP_005545.1:p.Gly499=