Canonical Allele Identifier: CA2580612731

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1966704
• ClinVar RCV Id: RCV002745592
• gnomAD v4: 16-16177457-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16177461_16177463del , CM000678.2:g.16177461_16177463del	GRCh38
NC_000016.9:g.16271318_16271320del , CM000678.1:g.16271318_16271320del	GRCh37
NC_000016.8:g.16178819_16178821del	NCBI36
NG_007558.2:g.51012_51014del
NG_007558.3:g.51158_51160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2582_2584del	ENSP00000483331.2:p.Gly861del
ENST00000205557.12:c.2582_2584del MANE Select	ENSP00000205557.7:p.Gly861del
ENST00000205557.11:c.2582_2584del	ENSP00000205557.7:p.Gly861del
ENST00000456970.6:c.2415+1338_2415+1340del	ENSP00000405002.2:n.2415+1338_2415+1340del
ENST00000576683.1:n.62_64del
ENST00000622290.4:c.2415+1338_2415+1340del	ENSP00000483331.1:n.2415+1338_2415+1340del
NM_001171.5:c.2582_2584del	NP_001162.4:p.Gly861del
XM_011522479.1:c.2549_2551del	XP_011520781.1:p.Gly850del
XM_011522480.1:c.2240_2242del	XP_011520782.1:p.Gly747del
XM_011522481.1:c.2240_2242del	XP_011520783.1:p.Gly747del
XM_011522482.1:c.2582_2584del	XP_011520784.1:p.Gly861del
XR_932836.1:n.2817_2819del
XR_932837.1:n.2818_2820del
XR_932838.1:n.2818_2820del
NM_001351800.1:c.2240_2242del	NP_001338729.1:p.Gly747del
NR_147784.1:n.2452+1338_2452+1340del
XM_011522479.2:c.2549_2551del	XP_011520781.1:p.Gly850del
XM_011522481.3:c.2240_2242del	XP_011520783.1:p.Gly747del
XM_011522482.3:c.2582_2584del	XP_011520784.1:p.Gly861del
XM_017023212.1:c.2414_2416del	XP_016878701.1:p.Gly805del
XM_017023214.1:c.2582_2584del	XP_016878703.1:p.Gly861del
XM_024450261.1:c.2618_2620del	XP_024306029.1:p.Gly873del
XR_932836.2:n.2763_2765del
XR_932837.3:n.2763_2765del
XR_932838.3:n.2763_2765del
NM_001171.6:c.2582_2584del MANE Select	NP_001162.5:p.Gly861del