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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_000014.9:g.23425293_23425294delinsCA , CM000676.2:g.23425293_23425294delinsCA
GRCh38
NC_000014.8:g.23894502_23894503delinsCA , CM000676.1:g.23894502_23894503delinsCA
GRCh37
NC_000014.7:g.22964342_22964343delinsCA
NCBI36
NG_007884.1:g.15368_15369delinsTG , LRG_384:g.15368_15369delinsTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2411_2412delinsTG
MANE Select
ENSP00000347507.3:p.Leu804=
ENST00000355349.3:c.2411_2412delinsTG
ENSP00000347507.3:p.Leu804=
NM_000257.3:c.2411_2412delinsTG
NP_000248.2:p.Leu804=
XR_245686.3:n.2517_2518delinsTG
XM_017021340.1:c.2411_2412delinsTG
XP_016876829.1:p.Leu804=
NM_000257.4:c.2411_2412delinsTG
MANE Select
NP_000248.2:p.Leu804=