Canonical Allele Identifier: CA281570

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 6566
• ClinVar RCV Id: RCV000006944
• dbSNP Id: rs387906352
• MyVariant Identifiers: chr16:g.16244594_16244595insTTCT (hg19) ; chr16:g.16150737_16150738insTTCT (hg38)
• PubMed: PMID:16541094

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150737_16150738insTTCT , CM000678.2:g.16150737_16150738insTTCT	GRCh38
NC_000016.9:g.16244594_16244595insTTCT , CM000678.1:g.16244594_16244595insTTCT	GRCh37
NC_000016.8:g.16152095_16152096insTTCT	NCBI36
NG_007558.2:g.77734_77735insAGAA
NG_007558.3:g.77880_77881insAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*415_*416insAGAA	ENSP00000483331.2:n.*415_*416insAGAA
ENST00000205557.12:c.4243_4244insAGAA MANE Select	ENSP00000205557.7:p.Ala1415GlufsTer?
ENST00000640696.1:c.1057_1058insAGAA	ENSP00000492197.1:p.Ala353GlufsTer?
ENST00000205557.11:c.4243_4244insAGAA	ENSP00000205557.7:p.Ala1415GlufsTer?
ENST00000456970.6:c.3868_3869insAGAA	ENSP00000405002.2:n.3868_3869insAGAA
ENST00000576204.5:n.1106_1107insAGAA
ENST00000622290.4:c.*1452_*1453insAGAA	ENSP00000483331.1:n.*1452_*1453insAGAA
NM_001171.5:c.4243_4244insAGAA	NP_001162.4:p.Ala1415GlufsTer?
XM_011522479.1:c.4210_4211insAGAA	XP_011520781.1:p.Ala1404GlufsTer?
XM_011522480.1:c.3901_3902insAGAA	XP_011520782.1:p.Ala1301GlufsTer?
XM_011522481.1:c.3901_3902insAGAA	XP_011520783.1:p.Ala1301GlufsTer?
XR_933134.1:n.538+6447_538+6448insTTCT
NM_001351800.1:c.3901_3902insAGAA	NP_001338729.1:p.Ala1301GlufsTer?
NR_147784.1:n.3905_3906insAGAA
XM_011522479.2:c.4210_4211insAGAA	XP_011520781.1:p.Ala1404GlufsTer?
XM_011522481.3:c.3901_3902insAGAA	XP_011520783.1:p.Ala1301GlufsTer?
XM_017023212.1:c.4075_4076insAGAA	XP_016878701.1:p.Ala1359GlufsTer?
XM_024450261.1:c.4279_4280insAGAA	XP_024306029.1:p.Ala1427GlufsTer?
NM_001171.6:c.4243_4244insAGAA MANE Select	NP_001162.5:p.Ala1415GlufsTer?