Canonical Allele Identifier: CA2839685336

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154879dup , CM000678.2:g.16154879dup	GRCh38
NC_000016.9:g.16248736dup , CM000678.1:g.16248736dup	GRCh37
NC_000016.8:g.16156237dup	NCBI36
NG_007558.2:g.73597dup
NG_007558.3:g.73743dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.902dup
ENST00000622290.5:c.*211dup	ENSP00000483331.2:n.*211dup
ENST00000205557.12:c.4039dup MANE Select	ENSP00000205557.7:p.Gln1347ProfsTer?
ENST00000640696.1:c.853dup	ENSP00000492197.1:p.Gln285ProfsTer?
ENST00000205557.11:c.4039dup	ENSP00000205557.7:p.Gln1347ProfsTer?
ENST00000456970.6:c.3664dup	ENSP00000405002.2:n.3664dup
ENST00000576204.5:n.902dup
ENST00000622290.4:c.*1248dup	ENSP00000483331.1:n.*1248dup
NM_001171.5:c.4039dup	NP_001162.4:p.Gln1347ProfsTer?
XM_011522479.1:c.4006dup	XP_011520781.1:p.Gln1336ProfsTer?
XM_011522480.1:c.3697dup	XP_011520782.1:p.Gln1233ProfsTer?
XM_011522481.1:c.3697dup	XP_011520783.1:p.Gln1233ProfsTer?
XR_933134.1:n.539-4902dup
NM_001351800.1:c.3697dup	NP_001338729.1:p.Gln1233ProfsTer?
NR_147784.1:n.3701dup
XM_011522479.2:c.4006dup	XP_011520781.1:p.Gln1336ProfsTer?
XM_011522481.3:c.3697dup	XP_011520783.1:p.Gln1233ProfsTer?
XM_017023212.1:c.3871dup	XP_016878701.1:p.Gln1291ProfsTer?
XM_024450261.1:c.4075dup	XP_024306029.1:p.Gln1359ProfsTer?
NM_001171.6:c.4039dup MANE Select	NP_001162.5:p.Gln1347ProfsTer?