Canonical Allele Identifier: CA2580090798

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2022821
• ClinVar RCV Id: RCV002852774

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154984_16155002dup , CM000678.2:g.16154984_16155002dup	GRCh38
NC_000016.9:g.16248841_16248859dup , CM000678.1:g.16248841_16248859dup	GRCh37
NC_000016.8:g.16156342_16156360dup	NCBI36
NG_007558.2:g.73471_73489dup
NG_007558.3:g.73617_73635dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.776_794dup
ENST00000622290.5:c.*85_*103dup	ENSP00000483331.2:n.*85_*103dup
ENST00000205557.12:c.3913_3931dup MANE Select	ENSP00000205557.7:p.Gly1311GlufsTer16
ENST00000640696.1:c.727_745dup	ENSP00000492197.1:p.Gly249GlufsTer16
ENST00000205557.11:c.3913_3931dup	ENSP00000205557.7:p.Gly1311GlufsTer16
ENST00000456970.6:c.3538_3556dup	ENSP00000405002.2:n.3538_3556dup
ENST00000576204.5:n.776_794dup
ENST00000622290.4:c.*1122_*1140dup	ENSP00000483331.1:n.*1122_*1140dup
NM_001171.5:c.3913_3931dup	NP_001162.4:p.Gly1311GlufsTer16
XM_011522479.1:c.3880_3898dup	XP_011520781.1:p.Gly1300GlufsTer16
XM_011522480.1:c.3571_3589dup	XP_011520782.1:p.Gly1197GlufsTer16
XM_011522481.1:c.3571_3589dup	XP_011520783.1:p.Gly1197GlufsTer16
XR_932836.1:n.4211_4229dup
XR_932837.1:n.3949_3967dup
XR_932838.1:n.4012_4030dup
XR_933134.1:n.539-4797_539-4779dup
NM_001351800.1:c.3571_3589dup	NP_001338729.1:p.Gly1197GlufsTer16
NR_147784.1:n.3575_3593dup
XM_011522479.2:c.3880_3898dup	XP_011520781.1:p.Gly1300GlufsTer16
XM_011522481.3:c.3571_3589dup	XP_011520783.1:p.Gly1197GlufsTer16
XM_017023212.1:c.3745_3763dup	XP_016878701.1:p.Gly1255GlufsTer16
XM_024450261.1:c.3949_3967dup	XP_024306029.1:p.Gly1323GlufsTer16
XR_932836.2:n.4157_4175dup
XR_932837.3:n.3894_3912dup
XR_932838.3:n.3957_3975dup
NM_001171.6:c.3913_3931dup MANE Select	NP_001162.5:p.Gly1311GlufsTer16