Canonical Allele Identifier: CA2210141034

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155001_16155002delinsTC , CM000678.2:g.16155001_16155002delinsTC	GRCh38
NC_000016.9:g.16248858_16248859delinsTC , CM000678.1:g.16248858_16248859delinsTC	GRCh37
NC_000016.8:g.16156359_16156360delinsTC	NCBI36
NG_007558.2:g.73470_73471delinsGA
NG_007558.3:g.73616_73617delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.775_776delinsGA
ENST00000622290.5:c.*84_*85delinsGA	ENSP00000483331.2:n.*84_*85delinsGA
ENST00000205557.12:c.3912_3913delinsGA MANE Select	ENSP00000205557.7:p.Gly1304=
ENST00000640696.1:c.726_727delinsGA	ENSP00000492197.1:p.Gly242=
ENST00000205557.11:c.3912_3913delinsGA	ENSP00000205557.7:p.Gly1304=
ENST00000456970.6:c.3537_3538delinsGA	ENSP00000405002.2:n.3537_3538delinsGA
ENST00000576204.5:n.775_776delinsGA
ENST00000622290.4:c.*1121_*1122delinsGA	ENSP00000483331.1:n.*1121_*1122delinsGA
NM_001171.5:c.3912_3913delinsGA	NP_001162.4:p.Gly1304=
XM_011522479.1:c.3879_3880delinsGA	XP_011520781.1:p.Gly1293=
XM_011522480.1:c.3570_3571delinsGA	XP_011520782.1:p.Gly1190=
XM_011522481.1:c.3570_3571delinsGA	XP_011520783.1:p.Gly1190=
XR_932836.1:n.4210_4211delinsGA
XR_932837.1:n.3948_3949delinsGA
XR_932838.1:n.4011_4012delinsGA
XR_933134.1:n.539-4780_539-4779delinsTC
NM_001351800.1:c.3570_3571delinsGA	NP_001338729.1:p.Gly1190=
NR_147784.1:n.3574_3575delinsGA
XM_011522479.2:c.3879_3880delinsGA	XP_011520781.1:p.Gly1293=
XM_011522481.3:c.3570_3571delinsGA	XP_011520783.1:p.Gly1190=
XM_017023212.1:c.3744_3745delinsGA	XP_016878701.1:p.Gly1248=
XM_024450261.1:c.3948_3949delinsGA	XP_024306029.1:p.Gly1316=
XR_932836.2:n.4156_4157delinsGA
XR_932837.3:n.3893_3894delinsGA
XR_932838.3:n.3956_3957delinsGA
NM_001171.6:c.3912_3913delinsGA MANE Select	NP_001162.5:p.Gly1304=