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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.63962193_63962202delinsCCTCTCTTCT , CM000667.2:g.63962193_63962202delinsCCTCTCTTCT
GRCh38
NC_000005.9:g.63258020_63258029delinsCCTCTCTTCT , CM000667.1:g.63258020_63258029delinsCCTCTCTTCT
GRCh37
NC_000005.8:g.63293776_63293785delinsCCTCTCTTCT
NCBI36
NG_032816.1:g.5091_5100delinsAGAAGAGAGG
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-483_-474delinsAGAAGAGAGG
MANE Select
ENSP00000316244.4:n.-483_-474delinsAGAAGA...
ENST00000506598.1:c.-387-96_-387-87delinsAGAAGAGAGG
ENSP00000423433.1:n.-387-96_-387-87delins...
NM_000524.3:c.-483_-474delinsAGAAGAGAGG
NP_000515.2:n.-483_-474delinsAGAAGAGAGG
NM_000524.4:c.-483_-474delinsAGAAGAGAGG
MANE Select
NP_000515.2:n.-483_-474delinsAGAAGAGAGG