Canonical Allele Identifier: CA2210143310

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169804_16169805delinsAG , CM000678.2:g.16169804_16169805delinsAG	GRCh38
NC_000016.9:g.16263661_16263662delinsAG , CM000678.1:g.16263661_16263662delinsAG	GRCh37
NC_000016.8:g.16171162_16171163delinsAG	NCBI36
NG_007558.2:g.58667_58668delinsCT
NG_007558.3:g.58813_58814delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2836_2837delinsCT	ENSP00000483331.2:p.Leu946=
ENST00000205557.12:c.2836_2837delinsCT MANE Select	ENSP00000205557.7:p.Leu946=
ENST00000205557.11:c.2836_2837delinsCT	ENSP00000205557.7:p.Leu946=
ENST00000456970.6:c.2661_2662delinsCT	ENSP00000405002.2:n.2661_2662delinsCT
ENST00000622290.4:c.*45_*46delinsCT	ENSP00000483331.1:n.*45_*46delinsCT
NM_001171.5:c.2836_2837delinsCT	NP_001162.4:p.Leu946=
XM_011522479.1:c.2803_2804delinsCT	XP_011520781.1:p.Leu935=
XM_011522480.1:c.2494_2495delinsCT	XP_011520782.1:p.Leu832=
XM_011522481.1:c.2494_2495delinsCT	XP_011520783.1:p.Leu832=
XR_932836.1:n.3071_3072delinsCT
XR_932837.1:n.3072_3073delinsCT
XR_932838.1:n.3072_3073delinsCT
NM_001351800.1:c.2494_2495delinsCT	NP_001338729.1:p.Leu832=
NR_147784.1:n.2698_2699delinsCT
XM_011522479.2:c.2803_2804delinsCT	XP_011520781.1:p.Leu935=
XM_011522481.3:c.2494_2495delinsCT	XP_011520783.1:p.Leu832=
XM_017023212.1:c.2668_2669delinsCT	XP_016878701.1:p.Leu890=
XM_017023214.1:c.2836_2837delinsCT	XP_016878703.1:p.Leu946=
XM_024450261.1:c.2872_2873delinsCT	XP_024306029.1:p.Leu958=
XR_932836.2:n.3017_3018delinsCT
XR_932837.3:n.3017_3018delinsCT
XR_932838.3:n.3017_3018delinsCT
NM_001171.6:c.2836_2837delinsCT MANE Select	NP_001162.5:p.Leu946=