Canonical Allele Identifier: CA2573151902

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1390356
• ClinVar RCV Id: RCV001917581
• dbSNP Id: rs2152224246

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163002del , CM000678.2:g.16163002del	GRCh38
NC_000016.9:g.16256859del , CM000678.1:g.16256859del	GRCh37
NC_000016.8:g.16164360del	NCBI36
NG_007558.2:g.65470del
NG_007558.3:g.65616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3497del	ENSP00000483331.2:p.Val1166GlyfsTer27
ENST00000205557.12:c.3497del MANE Select	ENSP00000205557.7:p.Val1166GlyfsTer27
ENST00000640696.1:c.321-1438del	ENSP00000492197.1:n.321-1438del
ENST00000205557.11:c.3497del	ENSP00000205557.7:p.Val1166GlyfsTer27
ENST00000456970.6:c.3132-1438del	ENSP00000405002.2:n.3132-1438del
ENST00000622290.4:c.*706del	ENSP00000483331.1:n.*706del
NM_001171.5:c.3497del	NP_001162.4:p.Val1166GlyfsTer27
XM_011522479.1:c.3464del	XP_011520781.1:p.Val1155GlyfsTer27
XM_011522480.1:c.3155del	XP_011520782.1:p.Val1052GlyfsTer27
XM_011522481.1:c.3155del	XP_011520783.1:p.Val1052GlyfsTer27
XR_932836.1:n.3732del
XR_932837.1:n.3543-1438del
XR_932838.1:n.3543-1438del
XR_933133.1:n.407+159del
XR_933134.1:n.754+159del
NM_001351800.1:c.3155del	NP_001338729.1:p.Val1052GlyfsTer27
NR_147784.1:n.3169-1438del
XM_011522479.2:c.3464del	XP_011520781.1:p.Val1155GlyfsTer27
XM_011522481.3:c.3155del	XP_011520783.1:p.Val1052GlyfsTer27
XM_017023212.1:c.3329del	XP_016878701.1:p.Val1110GlyfsTer27
XM_017023214.1:c.3307-1438del	XP_016878703.1:n.3307-1438del
XM_024450261.1:c.3533del	XP_024306029.1:p.Val1178GlyfsTer27
XR_932836.2:n.3678del
XR_932837.3:n.3488-1438del
XR_932838.3:n.3488-1438del
NM_001171.6:c.3497del MANE Select	NP_001162.5:p.Val1166GlyfsTer27