Canonical Allele Identifier: CA2832572694

Gene: C19orf12

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702965_29702966dup , CM000681.2:g.29702965_29702966dup	GRCh38
NC_000019.9:g.30193872_30193873dup , CM000681.1:g.30193872_30193873dup	GRCh37
NC_000019.8:g.34885712_34885713dup	NCBI36
NG_031970.1:g.17828_17829dup
NG_031970.2:g.17828_17829dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614091.5:c.176_177dup	ENSP00000482097.2:p.Leu60GlyfsTer3
ENST00000623113.3:c.176_177dup	ENSP00000485413.2:p.Leu60GlyfsTer3
ENST00000323670.14:c.176_177dup MANE Select	ENSP00000313332.9:p.Leu60GlyfsTer3
ENST00000323670.13:c.176_177dup	ENSP00000313332.8:p.Leu60GlyfsTer3
ENST00000342680.5:c.*90_*91dup	ENSP00000345497.5:n.*90_*91dup
ENST00000392275.1:n.567_568dup
ENST00000392276.1:c.-17_-16dup	ENSP00000376102.1:n.-17_-16dup
ENST00000392278.2:c.209_210dup	ENSP00000376103.2:p.Leu71GlyfsTer3
ENST00000591243.1:c.176_177dup	ENSP00000467516.1:p.Leu60GlyfsTer3
ENST00000592153.5:c.176_177dup	ENSP00000467117.1:p.Leu60GlyfsTer3
ENST00000614091.4:c.176_177dup	ENSP00000482097.1:p.Leu60GlyfsTer3
ENST00000623113.1:c.-17_-16dup	ENSP00000485413.1:n.-17_-16dup
NM_001031726.3:c.209_210dup	NP_001026896.2:p.Leu71GlyfsTer3
NM_001256046.1:c.176_177dup	NP_001242975.1:p.Leu60GlyfsTer3
NM_001256047.1:c.176_177dup	NP_001242976.1:p.Leu60GlyfsTer3
NM_001282929.1:c.-17_-16dup	NP_001269858.1:n.-17_-16dup
NM_001282930.1:c.-17_-16dup	NP_001269859.1:n.-17_-16dup
NM_001282931.1:c.-17_-16dup	NP_001269860.1:n.-17_-16dup
NM_031448.4:c.176_177dup	NP_113636.2:p.Leu60GlyfsTer3
XM_024451734.1:c.338_339dup	XP_024307502.1:p.Leu114GlyfsTer3
XM_024451735.1:c.176_177dup	XP_024307503.1:p.Leu60GlyfsTer3
XM_024451736.1:c.176_177dup	XP_024307504.1:p.Leu60GlyfsTer3
XM_024451737.1:c.176_177dup	XP_024307505.1:p.Leu60GlyfsTer3
XM_024451738.1:c.176_177dup	XP_024307506.1:p.Leu60GlyfsTer3
NM_001256046.2:c.176_177dup	NP_001242975.1:p.Leu60GlyfsTer3
NM_001282930.2:c.-17_-16dup	NP_001269859.1:n.-17_-16dup
NM_001282931.2:c.-17_-16dup	NP_001269860.1:n.-17_-16dup
NM_031448.6:c.176_177dup MANE Select	NP_113636.2:p.Leu60GlyfsTer3
NM_001031726.4:c.176_177dup	NP_001026896.3:p.Leu60GlyfsTer3
NM_001256046.3:c.176_177dup	NP_001242975.1:p.Leu60GlyfsTer3
NM_001256047.2:c.176_177dup	NP_001242976.1:p.Leu60GlyfsTer3
NM_001282930.3:c.-17_-16dup	NP_001269859.1:n.-17_-16dup
NM_001282931.3:c.-17_-16dup	NP_001269860.1:n.-17_-16dup