Canonical Allele Identifier: CA2695228506

Gene: C19orf12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702874_29702877dup , CM000681.2:g.29702874_29702877dup	GRCh38
NC_000019.9:g.30193781_30193784dup , CM000681.1:g.30193781_30193784dup	GRCh37
NC_000019.8:g.34885621_34885624dup	NCBI36
NG_031970.1:g.17913_17916dup
NG_031970.2:g.17913_17916dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614091.5:c.261_264dup	ENSP00000482097.2:p.Phe89AlafsTer3
ENST00000623113.3:c.261_264dup	ENSP00000485413.2:p.Phe89AlafsTer3
ENST00000323670.14:c.261_264dup MANE Select	ENSP00000313332.9:p.Phe89AlafsTer3
ENST00000323670.13:c.261_264dup	ENSP00000313332.8:p.Phe89AlafsTer3
ENST00000342680.5:c.*175_*178dup	ENSP00000345497.5:n.*175_*178dup
ENST00000392275.1:n.652_655dup
ENST00000392276.1:c.69_72dup	ENSP00000376102.1:p.Phe25AlafsTer3
ENST00000392278.2:c.294_297dup	ENSP00000376103.2:p.Phe100AlafsTer3
ENST00000591243.1:c.261_264dup	ENSP00000467516.1:p.Phe89AlafsTer3
ENST00000592153.5:c.261_264dup	ENSP00000467117.1:p.Phe89AlafsTer3
ENST00000614091.4:c.261_264dup	ENSP00000482097.1:p.Phe89AlafsTer3
ENST00000623113.1:c.69_72dup	ENSP00000485413.1:p.Phe25AlafsTer3
NM_001031726.3:c.294_297dup	NP_001026896.2:p.Phe100AlafsTer3
NM_001256046.1:c.261_264dup	NP_001242975.1:p.Phe89AlafsTer3
NM_001256047.1:c.261_264dup	NP_001242976.1:p.Phe89AlafsTer3
NM_001282929.1:c.69_72dup	NP_001269858.1:p.Phe25AlafsTer3
NM_001282930.1:c.69_72dup	NP_001269859.1:p.Phe25AlafsTer3
NM_001282931.1:c.69_72dup	NP_001269860.1:p.Phe25AlafsTer3
NM_031448.4:c.261_264dup	NP_113636.2:p.Phe89AlafsTer3
XM_024451734.1:c.423_426dup	XP_024307502.1:p.Phe143AlafsTer3
XM_024451735.1:c.261_264dup	XP_024307503.1:p.Phe89AlafsTer3
XM_024451736.1:c.261_264dup	XP_024307504.1:p.Phe89AlafsTer3
XM_024451737.1:c.261_264dup	XP_024307505.1:p.Phe89AlafsTer3
XM_024451738.1:c.261_264dup	XP_024307506.1:p.Phe89AlafsTer3
NM_001256046.2:c.261_264dup	NP_001242975.1:p.Phe89AlafsTer3
NM_001282930.2:c.69_72dup	NP_001269859.1:p.Phe25AlafsTer3
NM_001282931.2:c.69_72dup	NP_001269860.1:p.Phe25AlafsTer3
NM_031448.6:c.261_264dup MANE Select	NP_113636.2:p.Phe89AlafsTer3
NM_001031726.4:c.261_264dup	NP_001026896.3:p.Phe89AlafsTer3
NM_001256046.3:c.261_264dup	NP_001242975.1:p.Phe89AlafsTer3
NM_001256047.2:c.261_264dup	NP_001242976.1:p.Phe89AlafsTer3
NM_001282930.3:c.69_72dup	NP_001269859.1:p.Phe25AlafsTer3
NM_001282931.3:c.69_72dup	NP_001269860.1:p.Phe25AlafsTer3