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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.56572281_56572296delinsGCAGGAAGCTTCCAAT , CM000667.2:g.56572281_56572296delinsGCAGGAAGCTTCCAAT
GRCh38
NC_000005.9:g.55868108_55868123delinsGCAGGAAGCTTCCAAT , CM000667.1:g.55868108_55868123delinsGCAGGAAGCTTCCAAT
GRCh37
NC_000005.8:g.55903865_55903880delinsGCAGGAAGCTTCCAAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000438651.5:c.-15-16109_-15-16094delinsATTGGAAGCTTCCTGC
ENSP00000406718.1:n.-15-16109_-15-16094delinsATTGGAAGCTTCCTGC...
NM_001287053.1:c.-15-16109_-15-16094delinsATTGGAAGCTTCCTGC
NP_001273982.1:n.-15-16109_-15-16094delinsATTGGAAGCTTCCTGC
XM_017008942.1:c.-628-416_-628-401delinsATTGGAAGCTTCCTGC
XP_016864431.1:n.-628-416_-628-401delinsATTGGAAGCTTCCTGC
NR_161255.1:n.236-16109_236-16094delinsATTGGAAGCTTCCTGC