Canonical Allele Identifier: CA2210135263

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2632391
• ClinVar RCV Id: RCV004528639
• dbSNP Id: rs2046363256
• gnomAD v4: 16-16150738-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150739dup , CM000678.2:g.16150739dup	GRCh38
NC_000016.9:g.16244596dup , CM000678.1:g.16244596dup	GRCh37
NC_000016.8:g.16152097dup	NCBI36
NG_007558.2:g.77733dup
NG_007558.3:g.77879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*414dup	ENSP00000483331.2:n.*414dup
ENST00000205557.12:c.4242dup MANE Select	ENSP00000205557.7:p.Ala1415CysfsTer?
ENST00000640696.1:c.1056dup	ENSP00000492197.1:p.Ala353CysfsTer?
ENST00000205557.11:c.4242dup	ENSP00000205557.7:p.Ala1415CysfsTer?
ENST00000456970.6:c.3867dup	ENSP00000405002.2:n.3867dup
ENST00000576204.5:n.1105dup
ENST00000622290.4:c.*1451dup	ENSP00000483331.1:n.*1451dup
NM_001171.5:c.4242dup	NP_001162.4:p.Ala1415CysfsTer?
XM_011522479.1:c.4209dup	XP_011520781.1:p.Ala1404CysfsTer?
XM_011522480.1:c.3900dup	XP_011520782.1:p.Ala1301CysfsTer?
XM_011522481.1:c.3900dup	XP_011520783.1:p.Ala1301CysfsTer?
XR_933134.1:n.538+6449dup
NM_001351800.1:c.3900dup	NP_001338729.1:p.Ala1301CysfsTer?
NR_147784.1:n.3904dup
XM_011522479.2:c.4209dup	XP_011520781.1:p.Ala1404CysfsTer?
XM_011522481.3:c.3900dup	XP_011520783.1:p.Ala1301CysfsTer?
XM_017023212.1:c.4074dup	XP_016878701.1:p.Ala1359CysfsTer?
XM_024450261.1:c.4278dup	XP_024306029.1:p.Ala1427CysfsTer?
NM_001171.6:c.4242dup MANE Select	NP_001162.5:p.Ala1415CysfsTer?