Canonical Allele Identifier: CA919666116

Gene: ABCC6

Linked Data

• dbSNP Id: rs1596588326

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154652del , CM000678.2:g.16154652del	GRCh38
NC_000016.9:g.16248509del , CM000678.1:g.16248509del	GRCh37
NC_000016.8:g.16156010del	NCBI36
NG_007558.2:g.73820del
NG_007558.3:g.73966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*356del	ENSP00000483331.2:n.*356del
ENST00000205557.12:c.4184del MANE Select	ENSP00000205557.7:p.Cys1395LeufsTer8
ENST00000640696.1:c.998del	ENSP00000492197.1:p.Cys333LeufsTer8
ENST00000205557.11:c.4184del	ENSP00000205557.7:p.Cys1395LeufsTer8
ENST00000456970.6:c.3809del	ENSP00000405002.2:n.3809del
ENST00000576204.5:n.1047del
ENST00000622290.4:c.*1393del	ENSP00000483331.1:n.*1393del
NM_001171.5:c.4184del	NP_001162.4:p.Cys1395LeufsTer8
XM_011522479.1:c.4151del	XP_011520781.1:p.Cys1384LeufsTer8
XM_011522480.1:c.3842del	XP_011520782.1:p.Cys1281LeufsTer8
XM_011522481.1:c.3842del	XP_011520783.1:p.Cys1281LeufsTer8
XR_933134.1:n.539-5129del
NM_001351800.1:c.3842del	NP_001338729.1:p.Cys1281LeufsTer8
NR_147784.1:n.3846del
XM_011522479.2:c.4151del	XP_011520781.1:p.Cys1384LeufsTer8
XM_011522481.3:c.3842del	XP_011520783.1:p.Cys1281LeufsTer8
XM_017023212.1:c.4016del	XP_016878701.1:p.Cys1339LeufsTer8
XM_024450261.1:c.4220del	XP_024306029.1:p.Cys1407LeufsTer8
NM_001171.6:c.4184del MANE Select	NP_001162.5:p.Cys1395LeufsTer8