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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.149977762_149977763delinsCT , CM000667.2:g.149977762_149977763delinsCT
GRCh38
NC_000005.9:g.149357325_149357326delinsCT , CM000667.1:g.149357325_149357326delinsCT
GRCh37
NC_000005.8:g.149337518_149337519delinsCT
NCBI36
NG_007147.2:g.18880_18881delinsCT , LRG_684:g.18880_18881delinsCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000690410.1:n.342_343delinsCT
ENST00000286298.5:c.110_111delinsCT
MANE Select
ENSP00000286298.4:p.Thr37=
ENST00000286298.4:c.110_111delinsCT
ENSP00000286298.4:p.Thr37=
NM_000112.3:c.110_111delinsCT , LRG_684t1:c.110_111delinsCT
NP_000103.2:p.Thr37=
XM_017009191.2:c.110_111delinsCT
XP_016864680.1:p.Thr37=
NM_000112.4:c.110_111delinsCT
MANE Select
NP_000103.2:p.Thr37=