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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218893181_218893195delinsCAGCGAGCGCTGCCA , CM000664.2:g.218893181_218893195delinsCAGCGAGCGCTGCCA
GRCh38
NC_000002.11:g.219757903_219757917delinsCAGCGAGCGCTGCCA , CM000664.1:g.219757903_219757917delinsCAGCGAGCGCTGCCA
GRCh37
NC_000002.10:g.219466147_219466161delinsCAGCGAGCGCTGCCA
NCBI36
NG_012179.1:g.17649_17663delinsCAGCGAGCGCTGCCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000258411.8:c.1164_1178delinsCAGCGAGCGCTGCCA
MANE Select
ENSP00000258411.3:p.Arg388=
ENST00000258411.7:c.1164_1178delinsCAGCGAGCGCTGCCA
ENSP00000258411.3:p.Arg388=
NM_025216.2:c.1164_1178delinsCAGCGAGCGCTGCCA
NP_079492.2:p.Arg388=
XM_011511928.1:c.1113_1127delinsCAGCGAGCGCTGCCA
XP_011510230.1:p.Arg371=
XM_011511929.1:c.1068_1082delinsCAGCGAGCGCTGCCA
XP_011510231.1:p.Arg356=
XM_011511930.1:c.784_798delinsCAGCGAGCGCTGCCA
XP_011510232.1:p.Gln262=
XM_011511929.2:c.1068_1082delinsCAGCGAGCGCTGCCA
XP_011510231.1:p.Arg356=
NM_025216.3:c.1164_1178delinsCAGCGAGCGCTGCCA
MANE Select
NP_079492.2:p.Arg388=