Canonical Allele Identifier: CA2806039927

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169810dup , CM000678.2:g.16169810dup	GRCh38
NC_000016.9:g.16263667dup , CM000678.1:g.16263667dup	GRCh37
NC_000016.8:g.16171168dup	NCBI36
NG_007558.2:g.58667dup
NG_007558.3:g.58813dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2836dup	ENSP00000483331.2:p.Leu946ProfsTer?
ENST00000205557.12:c.2836dup MANE Select	ENSP00000205557.7:p.Leu946ProfsTer?
ENST00000205557.11:c.2836dup	ENSP00000205557.7:p.Leu946ProfsTer?
ENST00000456970.6:c.2661dup	ENSP00000405002.2:n.2661dup
ENST00000622290.4:c.*45dup	ENSP00000483331.1:n.*45dup
NM_001171.5:c.2836dup	NP_001162.4:p.Leu946ProfsTer?
XM_011522479.1:c.2803dup	XP_011520781.1:p.Leu935ProfsTer?
XM_011522480.1:c.2494dup	XP_011520782.1:p.Leu832ProfsTer?
XM_011522481.1:c.2494dup	XP_011520783.1:p.Leu832ProfsTer?
XR_932836.1:n.3071dup
XR_932837.1:n.3072dup
XR_932838.1:n.3072dup
NM_001351800.1:c.2494dup	NP_001338729.1:p.Leu832ProfsTer?
NR_147784.1:n.2698dup
XM_011522479.2:c.2803dup	XP_011520781.1:p.Leu935ProfsTer?
XM_011522481.3:c.2494dup	XP_011520783.1:p.Leu832ProfsTer?
XM_017023212.1:c.2668dup	XP_016878701.1:p.Leu890ProfsTer?
XM_017023214.1:c.2836dup	XP_016878703.1:p.Leu946ProfsTer?
XM_024450261.1:c.2872dup	XP_024306029.1:p.Leu958ProfsTer?
XR_932836.2:n.3017dup
XR_932837.3:n.3017dup
XR_932838.3:n.3017dup
NM_001171.6:c.2836dup MANE Select	NP_001162.5:p.Leu946ProfsTer?