Canonical Allele Identifier: CA691368903
Gene: C12orf57 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6944153dup , CM000674.2:g.6944153dup GRCh38
NC_000012.11:g.7053316dup , CM000674.1:g.7053316dup GRCh37
NC_000012.10:g.6923577dup NCBI36
NG_008047.1:g.24691dup
NG_034262.1:g.5337dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000229281.6:c.32dup MANE Select ENSP00000229281.5:p.Leu11PhefsTer4
ENST00000229281.5:c.32dup ENSP00000229281.5:p.Leu11PhefsTer4
ENST00000537087.5:c.32dup ENSP00000440937.1:p.Leu11PhefsTer4
ENST00000538392.1:n.389-323dup
ENST00000540506.2:c.-170dup ENSP00000475635.1:n.-170dup
ENST00000542222.1:n.231-323dup
ENST00000544681.1:c.32dup ENSP00000475422.1:p.Leu11PhefsTer4
ENST00000545581.5:c.32dup ENSP00000440602.1:p.Leu11PhefsTer4
NM_001301834.1:c.32dup NP_001288763.1:p.Leu11PhefsTer4
NM_001301836.1:c.14-323dup NP_001288765.1:n.14-323dup
NM_001301837.1:c.32dup NP_001288766.1:p.Leu11PhefsTer4
NM_001301838.1:c.-170dup NP_001288767.1:n.-170dup
NM_138425.3:c.32dup NP_612434.1:p.Leu11PhefsTer4
NR_126035.1:n.337dup
NM_138425.4:c.32dup MANE Select NP_612434.1:p.Leu11PhefsTer4
NM_001301836.2:c.14-323dup NP_001288765.1:n.14-323dup
NM_001301837.2:c.32dup NP_001288766.1:p.Leu11PhefsTer4
NM_001301838.2:c.-170dup NP_001288767.1:n.-170dup
NR_126035.2:n.132dup