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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_000012.12:g.13562219del , CM000674.2:g.13562219del
GRCh38
NC_000012.11:g.13715153del , CM000674.1:g.13715153del
GRCh37
NC_000012.10:g.13606420del
NCBI36
NG_031854.1:g.422872del
NG_031854.2:g.424796del
Transcript Alleles
HGVS
Amino-acid change
ENST00000609686.4:c.*566del
MANE Select
ENSP00000477455.1:n.*566del
ENST00000636207.1:n.54+21del
ENST00000637214.1:c.69+46386del
ENSP00000489997.1:n.69+46386del
ENST00000609686.3:c.*566del
ENSP00000477455.1:n.*566del
NM_000834.3:c.*566del
NP_000825.2:n.*566del
XM_005253351.2:c.*566del
XP_005253408.1:n.*566del
XM_011520628.1:c.*566del
XP_011518930.1:n.*566del
XM_011520629.1:c.*566del
XP_011518931.1:n.*566del
XM_011520630.1:c.*566del
XP_011518932.1:n.*566del
NM_000834.4:c.*566del
NP_000825.2:n.*566del
XM_005253351.3:c.*566del
XP_005253408.1:n.*566del
XM_011520628.2:c.*566del
XP_011518930.1:n.*566del
XM_011520629.2:c.*566del
XP_011518931.1:n.*566del
XM_017019219.2:c.*566del
XP_016874708.1:n.*566del
NM_000834.5:c.*566del
MANE Select
NP_000825.2:n.*566del