Canonical Allele Identifier: CA2210140454

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154651_16154652delinsAC , CM000678.2:g.16154651_16154652delinsAC	GRCh38
NC_000016.9:g.16248508_16248509delinsAC , CM000678.1:g.16248508_16248509delinsAC	GRCh37
NC_000016.8:g.16156009_16156010delinsAC	NCBI36
NG_007558.2:g.73820_73821delinsGT
NG_007558.3:g.73966_73967delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*356_*357delinsGT	ENSP00000483331.2:n.*356_*357delinsGT
ENST00000205557.12:c.4184_4185delinsGT MANE Select	ENSP00000205557.7:p.Cys1395=
ENST00000640696.1:c.998_999delinsGT	ENSP00000492197.1:p.Cys333=
ENST00000205557.11:c.4184_4185delinsGT	ENSP00000205557.7:p.Cys1395=
ENST00000456970.6:c.3809_3810delinsGT	ENSP00000405002.2:n.3809_3810delinsGT
ENST00000576204.5:n.1047_1048delinsGT
ENST00000622290.4:c.*1393_*1394delinsGT	ENSP00000483331.1:n.*1393_*1394delinsGT
NM_001171.5:c.4184_4185delinsGT	NP_001162.4:p.Cys1395=
XM_011522479.1:c.4151_4152delinsGT	XP_011520781.1:p.Cys1384=
XM_011522480.1:c.3842_3843delinsGT	XP_011520782.1:p.Cys1281=
XM_011522481.1:c.3842_3843delinsGT	XP_011520783.1:p.Cys1281=
XR_933134.1:n.539-5130_539-5129delinsAC
NM_001351800.1:c.3842_3843delinsGT	NP_001338729.1:p.Cys1281=
NR_147784.1:n.3846_3847delinsGT
XM_011522479.2:c.4151_4152delinsGT	XP_011520781.1:p.Cys1384=
XM_011522481.3:c.3842_3843delinsGT	XP_011520783.1:p.Cys1281=
XM_017023212.1:c.4016_4017delinsGT	XP_016878701.1:p.Cys1339=
XM_024450261.1:c.4220_4221delinsGT	XP_024306029.1:p.Cys1407=
NM_001171.6:c.4184_4185delinsGT MANE Select	NP_001162.5:p.Cys1395=