Canonical Allele Identifier: CA278676811

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433350
• ClinVar RCV Id: RCV000499018 ; RCV000504780 ; RCV001857050 ; RCV002506213
• dbSNP Id: rs72664237
• gnomAD v2: 16-16248588-CG-C
• gnomAD v3: 16-16154731-CG-C
• gnomAD v4: 16-16154731-CG-C
• MyVariant Identifiers: chr16:g.16248589del (hg19) ; chr16:g.16154732del (hg38)
• PubMed: PMID:11536079 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154732del , CM000678.2:g.16154732del	GRCh38
NC_000016.9:g.16248589del , CM000678.1:g.16248589del	GRCh37
NC_000016.8:g.16156090del	NCBI36
NG_007558.2:g.73740del
NG_007558.3:g.73886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.967del
ENST00000622290.5:c.*276del	ENSP00000483331.2:n.*276del
ENST00000205557.12:c.4104del MANE Select	ENSP00000205557.7:p.Asp1368GlufsTer?
ENST00000640696.1:c.918del	ENSP00000492197.1:p.Asp306GlufsTer?
ENST00000205557.11:c.4104del	ENSP00000205557.7:p.Asp1368GlufsTer?
ENST00000456970.6:c.3729del	ENSP00000405002.2:n.3729del
ENST00000576204.5:n.967del
ENST00000622290.4:c.*1313del	ENSP00000483331.1:n.*1313del
NM_001171.5:c.4104del	NP_001162.4:p.Asp1368GlufsTer?
XM_011522479.1:c.4071del	XP_011520781.1:p.Asp1357GlufsTer?
XM_011522480.1:c.3762del	XP_011520782.1:p.Asp1254GlufsTer?
XM_011522481.1:c.3762del	XP_011520783.1:p.Asp1254GlufsTer?
XR_933134.1:n.539-5049del
NM_001351800.1:c.3762del	NP_001338729.1:p.Asp1254GlufsTer?
NR_147784.1:n.3766del
XM_011522479.2:c.4071del	XP_011520781.1:p.Asp1357GlufsTer?
XM_011522481.3:c.3762del	XP_011520783.1:p.Asp1254GlufsTer?
XM_017023212.1:c.3936del	XP_016878701.1:p.Asp1312GlufsTer?
XM_024450261.1:c.4140del	XP_024306029.1:p.Asp1380GlufsTer?
NM_001171.6:c.4104del MANE Select	NP_001162.5:p.Asp1368GlufsTer?