Canonical Allele Identifier: CA7925253

Gene: ABCC6

Linked Data

• dbSNP Id: rs779044271
• ExAC: 16:16244620 C / CT
• gnomAD v2: 16-16244620-C-CT
• gnomAD v4: 16-16150763-C-CT
• MyVariant Identifiers: chr16:g.16244620_16244621insT (hg19) ; chr16:g.16150763_16150764insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150764dup , CM000678.2:g.16150764dup	GRCh38
NC_000016.9:g.16244621dup , CM000678.1:g.16244621dup	GRCh37
NC_000016.8:g.16152122dup	NCBI36
NG_007558.2:g.77708dup
NG_007558.3:g.77854dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*389dup	ENSP00000483331.2:n.*389dup
ENST00000205557.12:c.4217dup MANE Select	ENSP00000205557.7:p.Lys1407GlufsTer?
ENST00000640696.1:c.1031dup	ENSP00000492197.1:p.Lys345GlufsTer?
ENST00000205557.11:c.4217dup	ENSP00000205557.7:p.Lys1407GlufsTer?
ENST00000456970.6:c.3842dup	ENSP00000405002.2:n.3842dup
ENST00000576204.5:n.1080dup
ENST00000622290.4:c.*1426dup	ENSP00000483331.1:n.*1426dup
NM_001171.5:c.4217dup	NP_001162.4:p.Lys1407GlufsTer?
XM_011522479.1:c.4184dup	XP_011520781.1:p.Lys1396GlufsTer?
XM_011522480.1:c.3875dup	XP_011520782.1:p.Lys1293GlufsTer?
XM_011522481.1:c.3875dup	XP_011520783.1:p.Lys1293GlufsTer?
XR_933134.1:n.538+6474dup
NM_001351800.1:c.3875dup	NP_001338729.1:p.Lys1293GlufsTer?
NR_147784.1:n.3879dup
XM_011522479.2:c.4184dup	XP_011520781.1:p.Lys1396GlufsTer?
XM_011522481.3:c.3875dup	XP_011520783.1:p.Lys1293GlufsTer?
XM_017023212.1:c.4049dup	XP_016878701.1:p.Lys1351GlufsTer?
XM_024450261.1:c.4253dup	XP_024306029.1:p.Lys1419GlufsTer?
NM_001171.6:c.4217dup MANE Select	NP_001162.5:p.Lys1407GlufsTer?