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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_000001.11:g.159712358del , CM000663.2:g.159712358del
GRCh38
NC_000001.10:g.159682148del , CM000663.1:g.159682148del
GRCh37
NC_000001.9:g.157948772del
NCBI36
NG_013007.1:g.7233del
Transcript Alleles
HGVS
Amino-acid change
ENST00000255030.9:c.*1168del
MANE Select
ENSP00000255030.5:n.*1168del
ENST00000437342.1:c.*460del
ENSP00000402788.1:n.*460del
ENST00000473196.1:n.703del
NM_000567.2:c.*1168del
NP_000558.2:n.*1168del
XM_011509207.1:c.*460del
XP_011507509.1:n.*460del
NM_001329057.1:c.*460del
NP_001315986.1:n.*460del
NM_001329058.1:c.*234del
NP_001315987.1:n.*234del
NM_000567.3:c.*1168del
MANE Select
NP_000558.2:n.*1168del
NM_001329057.2:c.*460del
NP_001315986.1:n.*460del
NM_001329058.2:c.*234del
NP_001315987.1:n.*234del
NM_001382703.1:c.*1168del
NP_001369632.1:n.*1168del