Canonical Allele Identifier: CA2999627056

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154922dup , CM000678.2:g.16154922dup	GRCh38
NC_000016.9:g.16248779dup , CM000678.1:g.16248779dup	GRCh37
NC_000016.8:g.16156280dup	NCBI36
NG_007558.2:g.73552dup
NG_007558.3:g.73698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.857dup
ENST00000622290.5:c.*166dup	ENSP00000483331.2:n.*166dup
ENST00000205557.12:c.3994dup MANE Select	ENSP00000205557.7:p.His1332ProfsTer?
ENST00000640696.1:c.808dup	ENSP00000492197.1:p.His270ProfsTer?
ENST00000205557.11:c.3994dup	ENSP00000205557.7:p.His1332ProfsTer?
ENST00000456970.6:c.3619dup	ENSP00000405002.2:n.3619dup
ENST00000576204.5:n.857dup
ENST00000622290.4:c.*1203dup	ENSP00000483331.1:n.*1203dup
NM_001171.5:c.3994dup	NP_001162.4:p.His1332ProfsTer?
XM_011522479.1:c.3961dup	XP_011520781.1:p.His1321ProfsTer?
XM_011522480.1:c.3652dup	XP_011520782.1:p.His1218ProfsTer?
XM_011522481.1:c.3652dup	XP_011520783.1:p.His1218ProfsTer?
XR_933134.1:n.539-4859dup
NM_001351800.1:c.3652dup	NP_001338729.1:p.His1218ProfsTer?
NR_147784.1:n.3656dup
XM_011522479.2:c.3961dup	XP_011520781.1:p.His1321ProfsTer?
XM_011522481.3:c.3652dup	XP_011520783.1:p.His1218ProfsTer?
XM_017023212.1:c.3826dup	XP_016878701.1:p.His1276ProfsTer?
XM_024450261.1:c.4030dup	XP_024306029.1:p.His1344ProfsTer?
NM_001171.6:c.3994dup MANE Select	NP_001162.5:p.His1332ProfsTer?