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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.19117030_19117045delinsCGCCGCCGCTGCTGCT , CM000669.2:g.19117030_19117045delinsCGCCGCCGCTGCTGCT
GRCh38
NC_000007.13:g.19156653_19156668delinsCGCCGCCGCTGCTGCT , CM000669.1:g.19156653_19156668delinsCGCCGCCGCTGCTGCT
GRCh37
NC_000007.12:g.19123178_19123193delinsCGCCGCCGCTGCTGCT
NCBI36
NG_008114.1:g.5628_5643delinsAGCAGCAGCGGCGGCG
NG_008114.2:g.5628_5643delinsAGCAGCAGCGGCGGCG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242261.6:c.277_292delinsAGCAGCAGCGGCGGCG
MANE Select
ENSP00000242261.5:p.Ser93=
ENST00000242261.5:c.277_292delinsAGCAGCAGCGGCGGCG
ENSP00000242261.5:p.Ser93=
ENST00000354571.5:c.74_89delinsAGCAGCAGCGGCGGCG
NM_000474.3:c.277_292delinsAGCAGCAGCGGCGGCG
NP_000465.1:p.Ser93=
XM_011515496.1:c.277_292delinsAGCAGCAGCGGCGGCG
XP_011513798.1:p.Ser93=
NR_149001.1:n.628_643delinsAGCAGCAGCGGCGGCG
NM_000474.4:c.277_292delinsAGCAGCAGCGGCGGCG
MANE Select
NP_000465.1:p.Ser93=
NR_149001.2:n.592_607delinsAGCAGCAGCGGCGGCG