Canonical Allele Identifier: CA2580090836

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2135683
• ClinVar RCV Id: RCV003059685

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163164dup , CM000678.2:g.16163164dup	GRCh38
NC_000016.9:g.16257021dup , CM000678.1:g.16257021dup	GRCh37
NC_000016.8:g.16164522dup	NCBI36
NG_007558.2:g.65308dup
NG_007558.3:g.65454dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3335dup	ENSP00000483331.2:p.Arg1113GlufsTer17
ENST00000205557.12:c.3335dup MANE Select	ENSP00000205557.7:p.Arg1113GlufsTer17
ENST00000640696.1:c.321-1600dup	ENSP00000492197.1:n.321-1600dup
ENST00000205557.11:c.3335dup	ENSP00000205557.7:p.Arg1113GlufsTer17
ENST00000456970.6:c.3132-1600dup	ENSP00000405002.2:n.3132-1600dup
ENST00000622290.4:c.*544dup	ENSP00000483331.1:n.*544dup
NM_001171.5:c.3335dup	NP_001162.4:p.Arg1113GlufsTer17
XM_011522479.1:c.3302dup	XP_011520781.1:p.Arg1102GlufsTer17
XM_011522480.1:c.2993dup	XP_011520782.1:p.Arg999GlufsTer17
XM_011522481.1:c.2993dup	XP_011520783.1:p.Arg999GlufsTer17
XR_932836.1:n.3570dup
XR_932837.1:n.3543-1600dup
XR_932838.1:n.3543-1600dup
XR_933133.1:n.407+321dup
XR_933134.1:n.754+321dup
NM_001351800.1:c.2993dup	NP_001338729.1:p.Arg999GlufsTer17
NR_147784.1:n.3169-1600dup
XM_011522479.2:c.3302dup	XP_011520781.1:p.Arg1102GlufsTer17
XM_011522481.3:c.2993dup	XP_011520783.1:p.Arg999GlufsTer17
XM_017023212.1:c.3167dup	XP_016878701.1:p.Arg1057GlufsTer17
XM_017023214.1:c.3307-1600dup	XP_016878703.1:n.3307-1600dup
XM_024450261.1:c.3371dup	XP_024306029.1:p.Arg1125GlufsTer17
XR_932836.2:n.3516dup
XR_932837.3:n.3488-1600dup
XR_932838.3:n.3488-1600dup
NM_001171.6:c.3335dup MANE Select	NP_001162.5:p.Arg1113GlufsTer17