Canonical Allele Identifier: CA2573151855

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1430179
• ClinVar RCV Id: RCV001967440
• dbSNP Id: rs2152211980
• gnomAD v4: 16-16154755-CGAGGTTCATCCGCAGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154757_16154774del , CM000678.2:g.16154757_16154774del	GRCh38
NC_000016.9:g.16248614_16248631del , CM000678.1:g.16248614_16248631del	GRCh37
NC_000016.8:g.16156115_16156132del	NCBI36
NG_007558.2:g.73699_73716del
NG_007558.3:g.73845_73862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.926_943del
ENST00000622290.5:c.*235_*252del	ENSP00000483331.2:n.*235_*252del
ENST00000205557.12:c.4063_4080del MANE Select	ENSP00000205557.7:p.Ser1355_Leu1360del
ENST00000640696.1:c.877_894del	ENSP00000492197.1:p.Ser293_Leu298del
ENST00000205557.11:c.4063_4080del	ENSP00000205557.7:p.Ser1355_Leu1360del
ENST00000456970.6:c.3688_3705del	ENSP00000405002.2:n.3688_3705del
ENST00000576204.5:n.926_943del
ENST00000622290.4:c.*1272_*1289del	ENSP00000483331.1:n.*1272_*1289del
NM_001171.5:c.4063_4080del	NP_001162.4:p.Ser1355_Leu1360del
XM_011522479.1:c.4030_4047del	XP_011520781.1:p.Ser1344_Leu1349del
XM_011522480.1:c.3721_3738del	XP_011520782.1:p.Ser1241_Leu1246del
XM_011522481.1:c.3721_3738del	XP_011520783.1:p.Ser1241_Leu1246del
XR_933134.1:n.539-5024_539-5007del
NM_001351800.1:c.3721_3738del	NP_001338729.1:p.Ser1241_Leu1246del
NR_147784.1:n.3725_3742del
XM_011522479.2:c.4030_4047del	XP_011520781.1:p.Ser1344_Leu1349del
XM_011522481.3:c.3721_3738del	XP_011520783.1:p.Ser1241_Leu1246del
XM_017023212.1:c.3895_3912del	XP_016878701.1:p.Ser1299_Leu1304del
XM_024450261.1:c.4099_4116del	XP_024306029.1:p.Ser1367_Leu1372del
NM_001171.6:c.4063_4080del MANE Select	NP_001162.5:p.Ser1355_Leu1360del