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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.240878869_240878870insAGCTGTGACCTGCCCACTGGCACACAGCTGG , CM000664.2:g.240878869_240878870insAGCTGTGACCTGCCCACTGGCACACAGCTGG
GRCh38
NC_000002.11:g.241818286_241818287insAGCTGTGACCTGCCCACTGGCACACAGCTGG , CM000664.1:g.241818286_241818287insAGCTGTGACCTGCCCACTGGCACACAGCTGG
GRCh37
NC_000002.10:g.241466959_241466960insAGCTGTGACCTGCCCACTGGCACACAGCTGG
NCBI36
NG_008005.1:g.15125_15126insAGCTGTGACCTGCCCACTGGCACACAGCTGG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307503.4:c.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG
MANE Select
ENSP00000302620.3:n.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG...
ENST00000307503.3:c.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG
ENSP00000302620.3:n.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG...
ENST00000470255.1:n.1005_1006insAGCTGTGACCTGCCCACTGGCACACAGCTGG
NM_000030.2:c.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG
NP_000021.1:n.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG
NM_000030.3:c.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG
MANE Select
NP_000021.1:n.*48_*49insAGCTGTGACCTGCCCACTGGCACACAGCTGG