Canonical Allele Identifier: CA2210141002

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154980G= , CM000678.2:g.16154980G=	GRCh38
NC_000016.9:g.16248837G= , CM000678.1:g.16248837G=	GRCh37
NC_000016.8:g.16156338G=	NCBI36
NG_007558.2:g.73492C=
NG_007558.3:g.73638C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.797C=
ENST00000622290.5:c.*106C=	ENSP00000483331.2:n.*106C=
ENST00000205557.12:c.3934C= MANE Select	ENSP00000205557.7:p.Leu1312=
ENST00000640696.1:c.748C=	ENSP00000492197.1:p.Leu250=
ENST00000205557.11:c.3934C=	ENSP00000205557.7:p.Leu1312=
ENST00000456970.6:c.3559C=	ENSP00000405002.2:n.3559C=
ENST00000576204.5:n.797C=
ENST00000622290.4:c.*1143C=	ENSP00000483331.1:n.*1143C=
NM_001171.5:c.3934C=	NP_001162.4:p.Leu1312=
XM_011522479.1:c.3901C=	XP_011520781.1:p.Leu1301=
XM_011522480.1:c.3592C=	XP_011520782.1:p.Leu1198=
XM_011522481.1:c.3592C=	XP_011520783.1:p.Leu1198=
XR_932836.1:n.4232C=
XR_932837.1:n.3970C=
XR_932838.1:n.4033C=
XR_933134.1:n.539-4801G=
NM_001351800.1:c.3592C=	NP_001338729.1:p.Leu1198=
NR_147784.1:n.3596C=
XM_011522479.2:c.3901C=	XP_011520781.1:p.Leu1301=
XM_011522481.3:c.3592C=	XP_011520783.1:p.Leu1198=
XM_017023212.1:c.3766C=	XP_016878701.1:p.Leu1256=
XM_024450261.1:c.3970C=	XP_024306029.1:p.Leu1324=
XR_932836.2:n.4178C=
XR_932837.3:n.3915C=
XR_932838.3:n.3978C=
NM_001171.6:c.3934C= MANE Select	NP_001162.5:p.Leu1312=