Allele Registry

Canonical Allele Identifier: CA278675301

Gene: ABCC6 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr16:g.16150663del

GRCh37 chr16:g.16244520del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000499318

ClinVar Variation:

433361

dbSNP:

72664238

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150663del , CM000678.2:g.16150663del	GRCh38
NC_000016.9:g.16244520del , CM000678.1:g.16244520del	GRCh37
NC_000016.8:g.16152021del	NCBI36
NG_007558.2:g.77809del
NG_007558.3:g.77955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*490del	ENSP00000483331.2:n.*490del
ENST00000205557.12:c.4318del MANE Select	ENSP00000205557.7:p.Met1440CysfsTer24
ENST00000640696.1:c.1132del	ENSP00000492197.1:p.Met378CysfsTer24
ENST00000205557.11:c.4318del	ENSP00000205557.7:p.Met1440CysfsTer24
ENST00000456970.6:c.3943del	ENSP00000405002.2:n.3943del
ENST00000576204.5:n.1181del
ENST00000622290.4:c.*1527del	ENSP00000483331.1:n.*1527del
NM_001171.5:c.4318del	NP_001162.4:p.Met1440CysfsTer24
XM_011522479.1:c.4285del	XP_011520781.1:p.Met1429CysfsTer24
XM_011522480.1:c.3976del	XP_011520782.1:p.Met1326CysfsTer24
XM_011522481.1:c.3976del	XP_011520783.1:p.Met1326CysfsTer24
XR_933134.1:n.538+6373del
NM_001351800.1:c.3976del	NP_001338729.1:p.Met1326CysfsTer24
NR_147784.1:n.3980del
XM_011522479.2:c.4285del	XP_011520781.1:p.Met1429CysfsTer24
XM_011522481.3:c.3976del	XP_011520783.1:p.Met1326CysfsTer24
XM_017023212.1:c.4150del	XP_016878701.1:p.Met1384CysfsTer24
XM_024450261.1:c.4354del	XP_024306029.1:p.Met1452CysfsTer24
NM_001171.6:c.4318del MANE Select	NP_001162.5:p.Met1440CysfsTer24

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