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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_000006.12:g.12292299T= , CM000668.2:g.12292299T=
GRCh38
NC_000006.11:g.12292532T= , CM000668.1:g.12292532T=
GRCh37
NC_000006.10:g.12400518T=
NCBI36
NG_016196.1:g.7004T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000379375.6:c.65-42T=
MANE Select
ENSP00000368683.5:n.65-42T=
ENST00000379375.5:c.65-42T=
ENSP00000368683.5:n.65-42T=
NM_001168319.1:c.65-45T=
NP_001161791.1:n.65-45T=
NM_001955.4:c.65-42T=
NP_001946.3:n.65-42T=
XM_011514330.1:c.65-42T=
XP_011512632.1:n.65-42T=
XM_011514331.1:c.65-42T=
XP_011512633.1:n.65-42T=
XM_011514332.1:c.65-45T=
XP_011512634.1:n.65-45T=
XM_011514330.2:c.65-42T=
XP_011512632.1:n.65-42T=
XM_011514331.3:c.65-42T=
XP_011512633.1:n.65-42T=
XM_011514332.2:c.65-45T=
XP_011512634.1:n.65-45T=
XM_017010331.1:c.65-42T=
XP_016865820.1:n.65-42T=
NM_001955.5:c.65-42T=
MANE Select
NP_001946.3:n.65-42T=
NM_001168319.2:c.65-45T=
NP_001161791.1:n.65-45T=