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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_000010.11:g.122461765_122461771delinsCAGACCG , CM000672.2:g.122461765_122461771delinsCAGACCG
GRCh38
NC_000010.10:g.124221281_124221287delinsCAGACCG , CM000672.1:g.124221281_124221287delinsCAGACCG
GRCh37
NC_000010.9:g.124211271_124211277delinsCAGACCG
NCBI36
NG_011554.1:g.5241_5247delinsCAGACCG
Transcript Alleles
HGVS
Amino-acid change
ENST00000368984.8:c.113_119delinsCAGACCG
MANE Select
ENSP00000357980.3:p.Pro38=
ENST00000648167.1:c.154+3056_154+3062delinsCAGACCG
ENSP00000498033.1:n.154+3056_154+3062delinsCAGACCG
ENST00000368984.7:c.113_119delinsCAGACCG
ENSP00000357980.3:p.Pro38=
NM_002775.4:c.113_119delinsCAGACCG
NP_002766.1:p.Pro38=
NM_002775.5:c.113_119delinsCAGACCG
MANE Select
NP_002766.1:p.Pro38=