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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_000005.10:g.1444365_1444369delinsCACAG , CM000667.2:g.1444365_1444369delinsCACAG
GRCh38
NC_000005.9:g.1444480_1444484delinsCACAG , CM000667.1:g.1444480_1444484delinsCACAG
GRCh37
NC_000005.8:g.1497480_1497484delinsCACAG
NCBI36
NG_015885.1:g.6060_6064delinsCTGTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.-46+979_-46+983delinsCTGTG
MANE Select
ENSP00000270349.9:n.-46+979_-46+983delinsCTGTG
ENST00000270349.11:c.-46+979_-46+983delinsCTGTG
ENSP00000270349.9:n.-46+979_-46+983delinsCTGTG
NM_001044.4:c.-46+979_-46+983delinsCTGTG
NP_001035.1:n.-46+979_-46+983delinsCTGTG
NM_001044.5:c.-46+979_-46+983delinsCTGTG
MANE Select
NP_001035.1:n.-46+979_-46+983delinsCTGTG