Canonical Allele Identifier: CA3046160292

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154917_16154918insATGA , CM000678.2:g.16154917_16154918insATGA	GRCh38
NC_000016.9:g.16248774_16248775insATGA , CM000678.1:g.16248774_16248775insATGA	GRCh37
NC_000016.8:g.16156275_16156276insATGA	NCBI36
NG_007558.2:g.73554_73555insTCAT
NG_007558.3:g.73700_73701insTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.859_860insTCAT
ENST00000622290.5:c.*168_*169insTCAT	ENSP00000483331.2:n.*168_*169insTCAT
ENST00000205557.12:c.3996_3997insTCAT MANE Select	ENSP00000205557.7:p.Val1333SerfsTer?
ENST00000640696.1:c.810_811insTCAT	ENSP00000492197.1:p.Val271SerfsTer?
ENST00000205557.11:c.3996_3997insTCAT	ENSP00000205557.7:p.Val1333SerfsTer?
ENST00000456970.6:c.3621_3622insTCAT	ENSP00000405002.2:n.3621_3622insTCAT
ENST00000576204.5:n.859_860insTCAT
ENST00000622290.4:c.*1205_*1206insTCAT	ENSP00000483331.1:n.*1205_*1206insTCAT
NM_001171.5:c.3996_3997insTCAT	NP_001162.4:p.Val1333SerfsTer?
XM_011522479.1:c.3963_3964insTCAT	XP_011520781.1:p.Val1322SerfsTer?
XM_011522480.1:c.3654_3655insTCAT	XP_011520782.1:p.Val1219SerfsTer?
XM_011522481.1:c.3654_3655insTCAT	XP_011520783.1:p.Val1219SerfsTer?
XR_933134.1:n.539-4864_539-4863insATGA
NM_001351800.1:c.3654_3655insTCAT	NP_001338729.1:p.Val1219SerfsTer?
NR_147784.1:n.3658_3659insTCAT
XM_011522479.2:c.3963_3964insTCAT	XP_011520781.1:p.Val1322SerfsTer?
XM_011522481.3:c.3654_3655insTCAT	XP_011520783.1:p.Val1219SerfsTer?
XM_017023212.1:c.3828_3829insTCAT	XP_016878701.1:p.Val1277SerfsTer?
XM_024450261.1:c.4032_4033insTCAT	XP_024306029.1:p.Val1345SerfsTer?
NM_001171.6:c.3996_3997insTCAT MANE Select	NP_001162.5:p.Val1333SerfsTer?