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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.57190009del , CM000668.2:g.57190009del
GRCh38
NC_000006.11:g.57054807del , CM000668.1:g.57054807del
GRCh37
NC_000006.10:g.57162766del
NCBI36
NG_012170.1:g.37274del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000468148.6:c.*454del
MANE Select
ENSP00000417610.1:n.*454del
ENST00000317483.4:c.*454del
ENSP00000320413.3:n.*454del
ENST00000468148.5:c.*454del
ENSP00000417610.1:n.*454del
NM_001278666.1:c.*454del
NP_001265595.1:n.*454del
NM_001278667.1:c.*454del
NP_001265596.1:n.*454del
NM_001278668.1:c.*454del
NP_001265597.1:n.*454del
NM_016277.4:c.*454del
NP_057361.3:n.*454del
NM_183227.2:c.*454del
NP_899050.1:n.*454del
NR_103822.1:n.1027del
NM_016277.5:c.*454del
MANE Select
NP_057361.3:n.*454del
NM_001278666.2:c.*454del
NP_001265595.1:n.*454del
NM_001278667.2:c.*454del
NP_001265596.1:n.*454del
NM_001278668.2:c.*454del
NP_001265597.1:n.*454del
NM_183227.3:c.*454del
NP_899050.1:n.*454del
NR_103822.2:n.1020del