Canonical Allele Identifier: CA278631635

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433312
• ClinVar RCV Id: RCV000499185
• dbSNP Id: rs72664232
• gnomAD v3: 16-16163134-GA-G
• gnomAD v4: 16-16163134-GA-G
• MyVariant Identifiers: chr16:g.16256992del (hg19) ; chr16:g.16163135del (hg38)
• PubMed: PMID:18253096

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163135del , CM000678.2:g.16163135del	GRCh38
NC_000016.9:g.16256992del , CM000678.1:g.16256992del	GRCh37
NC_000016.8:g.16164493del	NCBI36
NG_007558.2:g.65337del
NG_007558.3:g.65483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3364del	ENSP00000483331.2:p.Ser1122LeufsTer?
ENST00000205557.12:c.3364del MANE Select	ENSP00000205557.7:p.Ser1122LeufsTer?
ENST00000640696.1:c.321-1571del	ENSP00000492197.1:n.321-1571del
ENST00000205557.11:c.3364del	ENSP00000205557.7:p.Ser1122LeufsTer?
ENST00000456970.6:c.3132-1571del	ENSP00000405002.2:n.3132-1571del
ENST00000622290.4:c.*573del	ENSP00000483331.1:n.*573del
NM_001171.5:c.3364del	NP_001162.4:p.Ser1122LeufsTer?
XM_011522479.1:c.3331del	XP_011520781.1:p.Ser1111LeufsTer?
XM_011522480.1:c.3022del	XP_011520782.1:p.Ser1008LeufsTer?
XM_011522481.1:c.3022del	XP_011520783.1:p.Ser1008LeufsTer?
XR_932836.1:n.3599del
XR_932837.1:n.3543-1571del
XR_932838.1:n.3543-1571del
XR_933133.1:n.407+292del
XR_933134.1:n.754+292del
NM_001351800.1:c.3022del	NP_001338729.1:p.Ser1008LeufsTer?
NR_147784.1:n.3169-1571del
XM_011522479.2:c.3331del	XP_011520781.1:p.Ser1111LeufsTer?
XM_011522481.3:c.3022del	XP_011520783.1:p.Ser1008LeufsTer?
XM_017023212.1:c.3196del	XP_016878701.1:p.Ser1066LeufsTer?
XM_017023214.1:c.3307-1571del	XP_016878703.1:n.3307-1571del
XM_024450261.1:c.3400del	XP_024306029.1:p.Ser1134LeufsTer?
XR_932836.2:n.3545del
XR_932837.3:n.3488-1571del
XR_932838.3:n.3488-1571del
NM_001171.6:c.3364del MANE Select	NP_001162.5:p.Ser1122LeufsTer?