Canonical Allele Identifier: CA2840791140
Gene: C19orf12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29708269del , CM000681.2:g.29708269del GRCh38
NC_000019.9:g.30199176del , CM000681.1:g.30199176del GRCh37
NC_000019.8:g.34891016del NCBI36
NG_031970.1:g.12522del
NG_031970.2:g.12522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614091.5:c.146del ENSP00000482097.2:p.Pro49ArgfsTer13
ENST00000623113.3:c.146del ENSP00000485413.2:p.Pro49ArgfsTer13
ENST00000323670.14:c.146del MANE Select ENSP00000313332.9:p.Pro49ArgfsTer13
ENST00000323670.13:c.146del ENSP00000313332.8:p.Pro49ArgfsTer13
ENST00000342680.5:c.146del ENSP00000345497.5:p.Pro49ArgfsTer9
ENST00000392275.1:n.552-5291del
ENST00000392276.1:c.-32-5291del ENSP00000376102.1:n.-32-5291del
ENST00000392278.2:c.179del ENSP00000376103.2:p.Pro60ArgfsTer13
ENST00000591243.1:c.146del ENSP00000467516.1:p.Pro49ArgfsTer13
ENST00000592153.5:c.146del ENSP00000467117.1:p.Pro49ArgfsTer13
ENST00000614091.4:c.146del ENSP00000482097.1:p.Pro49ArgfsTer13
ENST00000623113.1:c.-32-5291del ENSP00000485413.1:n.-32-5291del
NM_001031726.3:c.179del NP_001026896.2:p.Pro60ArgfsTer13
NM_001256046.1:c.146del NP_001242975.1:p.Pro49ArgfsTer13
NM_001256047.1:c.146del NP_001242976.1:p.Pro49ArgfsTer13
NM_001282929.1:c.-32-5291del NP_001269858.1:n.-32-5291del
NM_001282930.1:c.-32-5291del NP_001269859.1:n.-32-5291del
NM_001282931.1:c.-168del NP_001269860.1:n.-168del
NM_031448.4:c.146del NP_113636.2:p.Pro49ArgfsTer13
XM_024451734.1:c.308del XP_024307502.1:p.Pro103ArgfsTer13
XM_024451735.1:c.146del XP_024307503.1:p.Pro49ArgfsTer13
XM_024451736.1:c.146del XP_024307504.1:p.Pro49ArgfsTer13
XM_024451737.1:c.146del XP_024307505.1:p.Pro49ArgfsTer13
XM_024451738.1:c.146del XP_024307506.1:p.Pro49ArgfsTer13
NM_001256046.2:c.146del NP_001242975.1:p.Pro49ArgfsTer13
NM_001282930.2:c.-32-5291del NP_001269859.1:n.-32-5291del
NM_001282931.2:c.-168del NP_001269860.1:n.-168del
NM_031448.6:c.146del MANE Select NP_113636.2:p.Pro49ArgfsTer13
NM_001031726.4:c.146del NP_001026896.3:p.Pro49ArgfsTer13
NM_001256046.3:c.146del NP_001242975.1:p.Pro49ArgfsTer13
NM_001256047.2:c.146del NP_001242976.1:p.Pro49ArgfsTer13
NM_001282930.3:c.-32-5291del NP_001269859.1:n.-32-5291del
NM_001282931.3:c.-168del NP_001269860.1:n.-168del