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SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500 Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219060239_219060240delinsTT , CM000664.2:g.219060239_219060240delinsTT
GRCh38
NC_000002.11:g.219924961_219924962delinsTT , CM000664.1:g.219924961_219924962delinsTT
GRCh37
NC_000002.10:g.219633205_219633206delinsTT
NCBI36
NG_016741.1:g.5277_5278delinsAA
Transcript Alleles
HGVS
Amino-acid Change
NM_002181.4:c.228_229delinsAA
MANE Select
NP_002172.2:p.Arg77Ser
ENST00000295731.7:c.228_229delinsAA
MANE Select
ENSP00000295731.5:p.Arg77Ser
NM_002181.3:c.228_229delinsAA
NP_002172.2:p.Arg77Ser
ENST00000295731.6:c.228_229delinsAA
ENSP00000295731.5:p.Arg77Ser