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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_000003.12:g.138946549_138946581delinsCGAGTACGGGGGCTTCTGCGCCGGGTCCGGCTT , CM000665.2:g.138946549_138946581delinsCGAGTACGGGGGCTTCTGCGCCGGGTCCGGCTT
GRCh38
NC_000003.11:g.138665391_138665423delinsCGAGTACGGGGGCTTCTGCGCCGGGTCCGGCTT , CM000665.1:g.138665391_138665423delinsCGAGTACGGGGGCTTCTGCGCCGGGTCCGGCTT
GRCh37
NC_000003.10:g.140148081_140148113delinsCGAGTACGGGGGCTTCTGCGCCGGGTCCGGCTT
NCBI36
NG_012454.1:g.5560_5592delinsAAGCCGGACCCGGCGCAGAAGCCCCCGTACTCG
NG_029796.1:g.4316_4348delinsCGAGTACGGGGGCTTCTGCGCCGGGTCCGGCTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.142_174delinsAAGCCGGACCCGGCGCAGAAGCCCCCGTACTCG
MANE Select
ENSP00000497217.1:p.Lys48=
ENST00000330315.3:c.142_174delinsAAGCCGGACCCGGCGCAGAAGCCCCCGTACTCG
ENSP00000333188.3:p.Lys48=
NM_023067.3:c.142_174delinsAAGCCGGACCCGGCGCAGAAGCCCCCGTACTCG
NP_075555.1:p.Lys48=
NM_023067.4:c.142_174delinsAAGCCGGACCCGGCGCAGAAGCCCCCGTACTCG
MANE Select
NP_075555.1:p.Lys48=