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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_000015.10:g.74754615_74754616delinsGA , CM000677.2:g.74754615_74754616delinsGA
GRCh38
NC_000015.9:g.75046956_75046957delinsGA , CM000677.1:g.75046956_75046957delinsGA
GRCh37
NC_000015.8:g.72834009_72834010delinsGA
NCBI36
NG_008431.1:g.37074_37075delinsGA
NG_008431.2:g.37074_37075delinsGA
NG_061543.1:g.10771_10772delinsGA
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1254-176_1254-175delinsGA
MANE Select
ENSP00000342007.4:n.1254-176_1254-175delinsGA
ENST00000343932.4:c.1254-176_1254-175delinsGA
ENSP00000342007.4:n.1254-176_1254-175delinsGA
NM_000761.4:c.1254-176_1254-175delinsGA
NP_000752.2:n.1254-176_1254-175delinsGA
NM_000761.5:c.1254-176_1254-175delinsGA
MANE Select
NP_000752.2:n.1254-176_1254-175delinsGA