Canonical Allele Identifier: CA278625551

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433336
• ClinVar RCV Id: RCV000499261
• dbSNP Id: rs72664236
• gnomAD v4: 16-16155001-TC-T
• MyVariant Identifiers: chr16:g.16248859del (hg19) ; chr16:g.16155002del (hg38)
• PubMed: PMID:16086317

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155004del , CM000678.2:g.16155004del	GRCh38
NC_000016.9:g.16248861del , CM000678.1:g.16248861del	GRCh37
NC_000016.8:g.16156362del	NCBI36
NG_007558.2:g.73470del
NG_007558.3:g.73616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.775del
ENST00000622290.5:c.*84del	ENSP00000483331.2:n.*84del
ENST00000205557.12:c.3912del MANE Select	ENSP00000205557.7:p.Lys1305SerfsTer?
ENST00000640696.1:c.726del	ENSP00000492197.1:p.Lys243SerfsTer?
ENST00000205557.11:c.3912del	ENSP00000205557.7:p.Lys1305SerfsTer?
ENST00000456970.6:c.3537del	ENSP00000405002.2:n.3537del
ENST00000576204.5:n.775del
ENST00000622290.4:c.*1121del	ENSP00000483331.1:n.*1121del
NM_001171.5:c.3912del	NP_001162.4:p.Lys1305SerfsTer?
XM_011522479.1:c.3879del	XP_011520781.1:p.Lys1294SerfsTer?
XM_011522480.1:c.3570del	XP_011520782.1:p.Lys1191SerfsTer?
XM_011522481.1:c.3570del	XP_011520783.1:p.Lys1191SerfsTer?
XR_932836.1:n.4210del
XR_932837.1:n.3948del
XR_932838.1:n.4011del
XR_933134.1:n.539-4777del
NM_001351800.1:c.3570del	NP_001338729.1:p.Lys1191SerfsTer?
NR_147784.1:n.3574del
XM_011522479.2:c.3879del	XP_011520781.1:p.Lys1294SerfsTer?
XM_011522481.3:c.3570del	XP_011520783.1:p.Lys1191SerfsTer?
XM_017023212.1:c.3744del	XP_016878701.1:p.Lys1249SerfsTer?
XM_024450261.1:c.3948del	XP_024306029.1:p.Lys1317SerfsTer?
XR_932836.2:n.4156del
XR_932837.3:n.3893del
XR_932838.3:n.3956del
NM_001171.6:c.3912del MANE Select	NP_001162.5:p.Lys1305SerfsTer?