Canonical Allele Identifier: CA2210141065

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155015del , CM000678.2:g.16155015del	GRCh38
NC_000016.9:g.16248872del , CM000678.1:g.16248872del	GRCh37
NC_000016.8:g.16156373del	NCBI36
NG_007558.2:g.73458del
NG_007558.3:g.73604del

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.763del
ENST00000622290.5:c.*72del	ENSP00000483331.2:n.*72del
ENST00000205557.12:c.3900del MANE Select	ENSP00000205557.7:p.Thr1301ProfsTer?
ENST00000640696.1:c.714del	ENSP00000492197.1:p.Thr239ProfsTer?
ENST00000205557.11:c.3900del	ENSP00000205557.7:p.Thr1301ProfsTer?
ENST00000456970.6:c.3525del	ENSP00000405002.2:n.3525del
ENST00000576204.5:n.763del
ENST00000622290.4:c.*1109del	ENSP00000483331.1:n.*1109del
NM_001171.5:c.3900del	NP_001162.4:p.Thr1301ProfsTer?
XM_011522479.1:c.3867del	XP_011520781.1:p.Thr1290ProfsTer?
XM_011522480.1:c.3558del	XP_011520782.1:p.Thr1187ProfsTer?
XM_011522481.1:c.3558del	XP_011520783.1:p.Thr1187ProfsTer?
XR_932836.1:n.4198del
XR_932837.1:n.3936del
XR_932838.1:n.3999del
XR_933134.1:n.539-4766del
NM_001351800.1:c.3558del	NP_001338729.1:p.Thr1187ProfsTer?
NR_147784.1:n.3562del
XM_011522479.2:c.3867del	XP_011520781.1:p.Thr1290ProfsTer?
XM_011522481.3:c.3558del	XP_011520783.1:p.Thr1187ProfsTer?
XM_017023212.1:c.3732del	XP_016878701.1:p.Thr1245ProfsTer?
XM_024450261.1:c.3936del	XP_024306029.1:p.Thr1313ProfsTer?
XR_932836.2:n.4144del
XR_932837.3:n.3881del
XR_932838.3:n.3944del
NM_001171.6:c.3900del MANE Select	NP_001162.5:p.Thr1301ProfsTer?