Canonical Allele Identifier: CA915952935

Gene: C19orf12

Linked Data

• ClinVar Variation Id: 636275
• ClinVar RCV Id: RCV000788049
• dbSNP Id: rs1599534394

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702938_29702948del , CM000681.2:g.29702938_29702948del	GRCh38
NC_000019.9:g.30193845_30193855del , CM000681.1:g.30193845_30193855del	GRCh37
NC_000019.8:g.34885685_34885695del	NCBI36
NG_031970.1:g.17846_17856del
NG_031970.2:g.17846_17856del

Transcript Alleles

HGVS	Amino-acid change
ENST00000614091.5:c.194_204del	ENSP00000482097.2:p.Met65ThrfsTer3
ENST00000623113.3:c.194_204del	ENSP00000485413.2:p.Met65ThrfsTer3
ENST00000323670.14:c.194_204del MANE Select	ENSP00000313332.9:p.Met65ThrfsTer3
ENST00000323670.13:c.194_204del	ENSP00000313332.8:p.Met65ThrfsTer3
ENST00000342680.5:c.*108_*118del	ENSP00000345497.5:n.*108_*118del
ENST00000392275.1:n.585_595del
ENST00000392276.1:c.2_12del	ENSP00000376102.1:p.Met1ThrfsTer3
ENST00000392278.2:c.227_237del	ENSP00000376103.2:p.Met76ThrfsTer3
ENST00000591243.1:c.194_204del	ENSP00000467516.1:p.Met65ThrfsTer3
ENST00000592153.5:c.194_204del	ENSP00000467117.1:p.Met65ThrfsTer3
ENST00000614091.4:c.194_204del	ENSP00000482097.1:p.Met65ThrfsTer3
ENST00000623113.1:c.2_12del	ENSP00000485413.1:p.Met1ThrfsTer3
NM_001031726.3:c.227_237del	NP_001026896.2:p.Met76ThrfsTer3
NM_001256046.1:c.194_204del	NP_001242975.1:p.Met65ThrfsTer3
NM_001256047.1:c.194_204del	NP_001242976.1:p.Met65ThrfsTer3
NM_001282929.1:c.2_12del	NP_001269858.1:p.Met1ThrfsTer3
NM_001282930.1:c.2_12del	NP_001269859.1:p.Met1ThrfsTer3
NM_001282931.1:c.2_12del	NP_001269860.1:p.Met1ThrfsTer3
NM_031448.4:c.194_204del	NP_113636.2:p.Met65ThrfsTer3
XM_024451734.1:c.356_366del	XP_024307502.1:p.Met119ThrfsTer3
XM_024451735.1:c.194_204del	XP_024307503.1:p.Met65ThrfsTer3
XM_024451736.1:c.194_204del	XP_024307504.1:p.Met65ThrfsTer3
XM_024451737.1:c.194_204del	XP_024307505.1:p.Met65ThrfsTer3
XM_024451738.1:c.194_204del	XP_024307506.1:p.Met65ThrfsTer3
NM_001256046.2:c.194_204del	NP_001242975.1:p.Met65ThrfsTer3
NM_001282930.2:c.2_12del	NP_001269859.1:p.Met1ThrfsTer3
NM_001282931.2:c.2_12del	NP_001269860.1:p.Met1ThrfsTer3
NM_031448.6:c.194_204del MANE Select	NP_113636.2:p.Met65ThrfsTer3
NM_001031726.4:c.194_204del	NP_001026896.3:p.Met65ThrfsTer3
NM_001256046.3:c.194_204del	NP_001242975.1:p.Met65ThrfsTer3
NM_001256047.2:c.194_204del	NP_001242976.1:p.Met65ThrfsTer3
NM_001282930.3:c.2_12del	NP_001269859.1:p.Met1ThrfsTer3
NM_001282931.3:c.2_12del	NP_001269860.1:p.Met1ThrfsTer3