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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_000004.12:g.46085723_46085726delinsCATT , CM000666.2:g.46085723_46085726delinsCATT
GRCh38
NC_000004.11:g.46087740_46087743delinsCATT , CM000666.1:g.46087740_46087743delinsCATT
GRCh37
NC_000004.10:g.45782497_45782500delinsCATT
NCBI36
NG_046964.1:g.43340_43343delinsAATG
Transcript Alleles
HGVS
Amino-acid change
ENST00000295452.5:c.254-1673_254-1670delinsAATG
MANE Select
ENSP00000295452.4:n.254-1673_254-1670delinsAATG
ENST00000295452.4:c.254-1673_254-1670delinsAATG
ENSP00000295452.4:n.254-1673_254-1670delinsAATG
NM_173536.3:c.254-1673_254-1670delinsAATG
NP_775807.2:n.254-1673_254-1670delinsAATG
NM_173536.4:c.254-1673_254-1670delinsAATG
MANE Select
NP_775807.2:n.254-1673_254-1670delinsAATG