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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.23423942_23423943delinsTG , CM000676.2:g.23423942_23423943delinsTG
GRCh38
NC_000014.8:g.23893151_23893152delinsTG , CM000676.1:g.23893151_23893152delinsTG
GRCh37
NC_000014.7:g.22962991_22962992delinsTG
NCBI36
NG_007884.1:g.16719_16720delinsCA , LRG_384:g.16719_16720delinsCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2886_2887delinsCA
MANE Select
ENSP00000347507.3:p.Ala962=
ENST00000355349.3:c.2886_2887delinsCA
ENSP00000347507.3:p.Ala962=
NM_000257.3:c.2886_2887delinsCA
NP_000248.2:p.Ala962=
XR_245686.3:n.2992_2993delinsCA
XM_017021340.1:c.2886_2887delinsCA
XP_016876829.1:p.Ala962=
NM_000257.4:c.2886_2887delinsCA
MANE Select
NP_000248.2:p.Ala962=