Canonical Allele Identifier: CA2838301745

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16188841dup , CM000678.2:g.16188841dup	GRCh38
NC_000016.9:g.16282698dup , CM000678.1:g.16282698dup	GRCh37
NC_000016.8:g.16190199dup	NCBI36
NG_007558.2:g.39633dup
NG_007558.3:g.39779dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.1771dup	ENSP00000483331.2:p.Leu591ProfsTer9
ENST00000205557.12:c.1771dup MANE Select	ENSP00000205557.7:p.Leu591ProfsTer9
ENST00000205557.11:c.1771dup	ENSP00000205557.7:p.Leu591ProfsTer9
ENST00000456970.6:c.1771dup	ENSP00000405002.2:p.Leu591ProfsTer9
ENST00000574094.5:n.1867dup
ENST00000622290.4:c.1771dup	ENSP00000483331.1:p.Leu591ProfsTer9
NM_001171.5:c.1771dup	NP_001162.4:p.Leu591ProfsTer9
XM_011522479.1:c.1771dup	XP_011520781.1:p.Leu591ProfsTer9
XM_011522480.1:c.1429dup	XP_011520782.1:p.Leu477ProfsTer9
XM_011522481.1:c.1429dup	XP_011520783.1:p.Leu477ProfsTer9
XM_011522482.1:c.1771dup	XP_011520784.1:p.Leu591ProfsTer9
XR_932836.1:n.2006dup
XR_932837.1:n.2007dup
XR_932838.1:n.2007dup
NM_001351800.1:c.1429dup	NP_001338729.1:p.Leu477ProfsTer9
NR_147784.1:n.1808dup
XM_011522479.2:c.1771dup	XP_011520781.1:p.Leu591ProfsTer9
XM_011522481.3:c.1429dup	XP_011520783.1:p.Leu477ProfsTer9
XM_011522482.3:c.1771dup	XP_011520784.1:p.Leu591ProfsTer9
XM_017023212.1:c.1771dup	XP_016878701.1:p.Leu591ProfsTer9
XM_017023214.1:c.1771dup	XP_016878703.1:p.Leu591ProfsTer9
XM_024450261.1:c.1807dup	XP_024306029.1:p.Leu603ProfsTer9
XR_932836.2:n.1952dup
XR_932837.3:n.1952dup
XR_932838.3:n.1952dup
NM_001171.6:c.1771dup MANE Select	NP_001162.5:p.Leu591ProfsTer9