Canonical Allele Identifier: CA249120

Gene: C12orf57

Linked Data

• ClinVar Variation Id: 466308
• ClinVar RCV Id: RCV000202923 ; RCV000555858 ; RCV001683567
• dbSNP Id: rs199730337
• ExAC: 12:7053817 TGGGTCAGACGCGGGAAGGC / T
• gnomAD v2: 12-7053817-TGGGTCAGACGCGGGAAGGC-T
• gnomAD v3: 12-6944654-TGGGTCAGACGCGGGAAGGC-T
• gnomAD v4: 12-6944654-TGGGTCAGACGCGGGAAGGC-T
• COSMIC: COSM5413643
• MyVariant Identifiers: chr12:g.7053840_7053858del (hg19) ; chr12:g.7053828_7053846del (hg19) ; chr12:g.7053818_7053836del (hg19) ; chr12:g.6944677_6944695del (hg38) ; chr12:g.6944666_6944684del (hg38) ; chr12:g.6944656_6944674del (hg38) ; chr12:g.6944655_6944673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6944677_6944695del , CM000674.2:g.6944677_6944695del	GRCh38
NC_000012.11:g.7053840_7053858del , CM000674.1:g.7053840_7053858del	GRCh37
NC_000012.10:g.6924101_6924119del	NCBI36
NG_034262.1:g.5861_5879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229281.6:c.229+25_229+43del MANE Select	ENSP00000229281.5:n.229+25_229+43del
ENST00000229281.5:c.229+25_229+43del	ENSP00000229281.5:n.229+25_229+43del
ENST00000537087.5:c.142+112_142+130del	ENSP00000440937.1:n.142+112_142+130del
ENST00000538392.1:n.590_608del
ENST00000540506.2:c.124+25_124+43del	ENSP00000475635.1:n.124+25_124+43del
ENST00000542222.1:n.407+25_407+43del
ENST00000544681.1:c.254_272del	ENSP00000475422.1:p.Val85GlufsTer?
ENST00000545581.5:c.229+25_229+43del	ENSP00000440602.1:n.229+25_229+43del
NM_001301834.1:c.229+25_229+43del	NP_001288763.1:n.229+25_229+43del
NM_001301836.1:c.190+25_190+43del	NP_001288765.1:n.190+25_190+43del
NM_001301837.1:c.142+112_142+130del	NP_001288766.1:n.142+112_142+130del
NM_001301838.1:c.124+25_124+43del	NP_001288767.1:n.124+25_124+43del
NM_138425.3:c.229+25_229+43del	NP_612434.1:n.229+25_229+43del
NR_126035.1:n.543+112_543+130del
NM_138425.4:c.229+25_229+43del MANE Select	NP_612434.1:n.229+25_229+43del
NM_001301836.2:c.190+25_190+43del	NP_001288765.1:n.190+25_190+43del
NM_001301837.2:c.142+112_142+130del	NP_001288766.1:n.142+112_142+130del
NM_001301838.2:c.124+25_124+43del	NP_001288767.1:n.124+25_124+43del
NR_126035.2:n.338+112_338+130del