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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.74751860_74751861delinsTG , CM000677.2:g.74751860_74751861delinsTG
GRCh38
NC_000015.9:g.75044201_75044202delinsTG , CM000677.1:g.75044201_75044202delinsTG
GRCh37
NC_000015.8:g.72831254_72831255delinsTG
NCBI36
NG_008431.1:g.34319_34320delinsTG
NG_008431.2:g.34319_34320delinsTG
NG_061543.1:g.8016_8017delinsTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.1042+6_1042+7delinsTG
MANE Select
ENSP00000342007.4:n.1042+6_1042+7delinsTG
ENST00000343932.4:c.1042+6_1042+7delinsTG
ENSP00000342007.4:n.1042+6_1042+7delinsTG
NM_000761.4:c.1042+6_1042+7delinsTG
NP_000752.2:n.1042+6_1042+7delinsTG
NM_000761.5:c.1042+6_1042+7delinsTG
MANE Select
NP_000752.2:n.1042+6_1042+7delinsTG