Canonical Allele Identifier: CA2580090787

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2099772
• ClinVar RCV Id: RCV003021885

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154744del , CM000678.2:g.16154744del	GRCh38
NC_000016.9:g.16248601del , CM000678.1:g.16248601del	GRCh37
NC_000016.8:g.16156102del	NCBI36
NG_007558.2:g.73729del
NG_007558.3:g.73875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.956del
ENST00000622290.5:c.*265del	ENSP00000483331.2:n.*265del
ENST00000205557.12:c.4093del MANE Select	ENSP00000205557.7:p.Glu1365SerfsTer?
ENST00000640696.1:c.907del	ENSP00000492197.1:p.Glu303SerfsTer?
ENST00000205557.11:c.4093del	ENSP00000205557.7:p.Glu1365SerfsTer?
ENST00000456970.6:c.3718del	ENSP00000405002.2:n.3718del
ENST00000576204.5:n.956del
ENST00000622290.4:c.*1302del	ENSP00000483331.1:n.*1302del
NM_001171.5:c.4093del	NP_001162.4:p.Glu1365SerfsTer?
XM_011522479.1:c.4060del	XP_011520781.1:p.Glu1354SerfsTer?
XM_011522480.1:c.3751del	XP_011520782.1:p.Glu1251SerfsTer?
XM_011522481.1:c.3751del	XP_011520783.1:p.Glu1251SerfsTer?
XR_933134.1:n.539-5037del
NM_001351800.1:c.3751del	NP_001338729.1:p.Glu1251SerfsTer?
NR_147784.1:n.3755del
XM_011522479.2:c.4060del	XP_011520781.1:p.Glu1354SerfsTer?
XM_011522481.3:c.3751del	XP_011520783.1:p.Glu1251SerfsTer?
XM_017023212.1:c.3925del	XP_016878701.1:p.Glu1309SerfsTer?
XM_024450261.1:c.4129del	XP_024306029.1:p.Glu1377SerfsTer?
NM_001171.6:c.4093del MANE Select	NP_001162.5:p.Glu1365SerfsTer?