Canonical Allele Identifier: CA1139666388

Gene: C19orf12

Linked Data

• ClinVar Variation Id: 982027
• ClinVar RCV Id: RCV001261521
• dbSNP Id: rs1972184295

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702897_29702898dup , CM000681.2:g.29702897_29702898dup	GRCh38
NC_000019.9:g.30193804_30193805dup , CM000681.1:g.30193804_30193805dup	GRCh37
NC_000019.8:g.34885644_34885645dup	NCBI36
NG_031970.1:g.17892_17893dup
NG_031970.2:g.17892_17893dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614091.5:c.240_241dup	ENSP00000482097.2:p.Pro81ArgfsTer28
ENST00000623113.3:c.240_241dup	ENSP00000485413.2:p.Pro81ArgfsTer28
ENST00000323670.14:c.240_241dup MANE Select	ENSP00000313332.9:p.Pro81ArgfsTer28
ENST00000323670.13:c.240_241dup	ENSP00000313332.8:p.Pro81ArgfsTer28
ENST00000342680.5:c.*154_*155dup	ENSP00000345497.5:n.*154_*155dup
ENST00000392275.1:n.631_632dup
ENST00000392276.1:c.48_49dup	ENSP00000376102.1:p.Pro17ArgfsTer28
ENST00000392278.2:c.273_274dup	ENSP00000376103.2:p.Pro92ArgfsTer28
ENST00000591243.1:c.240_241dup	ENSP00000467516.1:p.Pro81ArgfsTer?
ENST00000592153.5:c.240_241dup	ENSP00000467117.1:p.Pro81ArgfsTer?
ENST00000614091.4:c.240_241dup	ENSP00000482097.1:p.Pro81ArgfsTer28
ENST00000623113.1:c.48_49dup	ENSP00000485413.1:p.Pro17ArgfsTer28
NM_001031726.3:c.273_274dup	NP_001026896.2:p.Pro92ArgfsTer28
NM_001256046.1:c.240_241dup	NP_001242975.1:p.Pro81ArgfsTer?
NM_001256047.1:c.240_241dup	NP_001242976.1:p.Pro81ArgfsTer28
NM_001282929.1:c.48_49dup	NP_001269858.1:p.Pro17ArgfsTer28
NM_001282930.1:c.48_49dup	NP_001269859.1:p.Pro17ArgfsTer28
NM_001282931.1:c.48_49dup	NP_001269860.1:p.Pro17ArgfsTer28
NM_031448.4:c.240_241dup	NP_113636.2:p.Pro81ArgfsTer28
XM_024451734.1:c.402_403dup	XP_024307502.1:p.Pro135ArgfsTer28
XM_024451735.1:c.240_241dup	XP_024307503.1:p.Pro81ArgfsTer28
XM_024451736.1:c.240_241dup	XP_024307504.1:p.Pro81ArgfsTer28
XM_024451737.1:c.240_241dup	XP_024307505.1:p.Pro81ArgfsTer28
XM_024451738.1:c.240_241dup	XP_024307506.1:p.Pro81ArgfsTer28
NM_001256046.2:c.240_241dup	NP_001242975.1:p.Pro81ArgfsTer?
NM_001282930.2:c.48_49dup	NP_001269859.1:p.Pro17ArgfsTer28
NM_001282931.2:c.48_49dup	NP_001269860.1:p.Pro17ArgfsTer28
NM_031448.6:c.240_241dup MANE Select	NP_113636.2:p.Pro81ArgfsTer28
NM_001031726.4:c.240_241dup	NP_001026896.3:p.Pro81ArgfsTer28
NM_001256046.3:c.240_241dup	NP_001242975.1:p.Pro81ArgfsTer?
NM_001256047.2:c.240_241dup	NP_001242976.1:p.Pro81ArgfsTer28
NM_001282930.3:c.48_49dup	NP_001269859.1:p.Pro17ArgfsTer28
NM_001282931.3:c.48_49dup	NP_001269860.1:p.Pro17ArgfsTer28