Canonical Allele Identifier: CA2210141062

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155013_16155014delinsTC , CM000678.2:g.16155013_16155014delinsTC	GRCh38
NC_000016.9:g.16248870_16248871delinsTC , CM000678.1:g.16248870_16248871delinsTC	GRCh37
NC_000016.8:g.16156371_16156372delinsTC	NCBI36
NG_007558.2:g.73458_73459delinsGA
NG_007558.3:g.73604_73605delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.763_764delinsGA
ENST00000622290.5:c.*72_*73delinsGA	ENSP00000483331.2:n.*72_*73delinsGA
ENST00000205557.12:c.3900_3901delinsGA MANE Select	ENSP00000205557.7:p.Arg1300=
ENST00000640696.1:c.714_715delinsGA	ENSP00000492197.1:p.Arg238=
ENST00000205557.11:c.3900_3901delinsGA	ENSP00000205557.7:p.Arg1300=
ENST00000456970.6:c.3525_3526delinsGA	ENSP00000405002.2:n.3525_3526delinsGA
ENST00000576204.5:n.763_764delinsGA
ENST00000622290.4:c.*1109_*1110delinsGA	ENSP00000483331.1:n.*1109_*1110delinsGA
NM_001171.5:c.3900_3901delinsGA	NP_001162.4:p.Arg1300=
XM_011522479.1:c.3867_3868delinsGA	XP_011520781.1:p.Arg1289=
XM_011522480.1:c.3558_3559delinsGA	XP_011520782.1:p.Arg1186=
XM_011522481.1:c.3558_3559delinsGA	XP_011520783.1:p.Arg1186=
XR_932836.1:n.4198_4199delinsGA
XR_932837.1:n.3936_3937delinsGA
XR_932838.1:n.3999_4000delinsGA
XR_933134.1:n.539-4768_539-4767delinsTC
NM_001351800.1:c.3558_3559delinsGA	NP_001338729.1:p.Arg1186=
NR_147784.1:n.3562_3563delinsGA
XM_011522479.2:c.3867_3868delinsGA	XP_011520781.1:p.Arg1289=
XM_011522481.3:c.3558_3559delinsGA	XP_011520783.1:p.Arg1186=
XM_017023212.1:c.3732_3733delinsGA	XP_016878701.1:p.Arg1244=
XM_024450261.1:c.3936_3937delinsGA	XP_024306029.1:p.Arg1312=
XR_932836.2:n.4144_4145delinsGA
XR_932837.3:n.3881_3882delinsGA
XR_932838.3:n.3944_3945delinsGA
NM_001171.6:c.3900_3901delinsGA MANE Select	NP_001162.5:p.Arg1300=