Canonical Allele Identifier: CA1139664552

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 930527
• ClinVar RCV Id: RCV001196265
• dbSNP Id: rs2047000316
• gnomAD v4: 16-16169804-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169810del , CM000678.2:g.16169810del	GRCh38
NC_000016.9:g.16263667del , CM000678.1:g.16263667del	GRCh37
NC_000016.8:g.16171168del	NCBI36
NG_007558.2:g.58667del
NG_007558.3:g.58813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2836del	ENSP00000483331.2:p.Leu946SerfsTer23
ENST00000205557.12:c.2836del MANE Select	ENSP00000205557.7:p.Leu946SerfsTer23
ENST00000205557.11:c.2836del	ENSP00000205557.7:p.Leu946SerfsTer23
ENST00000456970.6:c.2661del	ENSP00000405002.2:n.2661del
ENST00000622290.4:c.*45del	ENSP00000483331.1:n.*45del
NM_001171.5:c.2836del	NP_001162.4:p.Leu946SerfsTer23
XM_011522479.1:c.2803del	XP_011520781.1:p.Leu935SerfsTer23
XM_011522480.1:c.2494del	XP_011520782.1:p.Leu832SerfsTer23
XM_011522481.1:c.2494del	XP_011520783.1:p.Leu832SerfsTer23
XR_932836.1:n.3071del
XR_932837.1:n.3072del
XR_932838.1:n.3072del
NM_001351800.1:c.2494del	NP_001338729.1:p.Leu832SerfsTer23
NR_147784.1:n.2698del
XM_011522479.2:c.2803del	XP_011520781.1:p.Leu935SerfsTer23
XM_011522481.3:c.2494del	XP_011520783.1:p.Leu832SerfsTer23
XM_017023212.1:c.2668del	XP_016878701.1:p.Leu890SerfsTer23
XM_017023214.1:c.2836del	XP_016878703.1:p.Leu946SerfsTer23
XM_024450261.1:c.2872del	XP_024306029.1:p.Leu958SerfsTer23
XR_932836.2:n.3017del
XR_932837.3:n.3017del
XR_932838.3:n.3017del
NM_001171.6:c.2836del MANE Select	NP_001162.5:p.Leu946SerfsTer23