Allele Registry

Canonical Allele Identifier: CA278667006

Gene: ABCC6 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr16:g.16203448del

GRCh37 chr16:g.16297305del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000499253

ClinVar Variation:

433215

dbSNP:

72664226

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16203448del , CM000678.2:g.16203448del	GRCh38
NC_000016.9:g.16297305del , CM000678.1:g.16297305del	GRCh37
NC_000016.8:g.16204806del	NCBI36
NG_007558.2:g.25024del
NG_007558.3:g.25170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.960del	ENSP00000507301.1:p.Ser321ValfsTer?
ENST00000622290.5:c.960del	ENSP00000483331.2:p.Ser321ValfsTer?
ENST00000205557.12:c.960del MANE Select	ENSP00000205557.7:p.Ser321ValfsTer?
ENST00000205557.11:c.960del	ENSP00000205557.7:p.Ser321ValfsTer?
ENST00000456970.6:c.960del	ENSP00000405002.2:p.Ser321ValfsTer?
ENST00000574094.5:n.1056del
ENST00000577103.1:c.*827del	ENSP00000459243.1:n.*827del
ENST00000622290.4:c.960del	ENSP00000483331.1:p.Ser321ValfsTer?
NM_001171.5:c.960del	NP_001162.4:p.Ser321ValfsTer?
XM_011522479.1:c.960del	XP_011520781.1:p.Ser321ValfsTer?
XM_011522480.1:c.618del	XP_011520782.1:p.Ser207ValfsTer?
XM_011522481.1:c.618del	XP_011520783.1:p.Ser207ValfsTer?
XM_011522482.1:c.960del	XP_011520784.1:p.Ser321ValfsTer?
XR_932836.1:n.1195del
XR_932837.1:n.1196del
XR_932838.1:n.1196del
NM_001351800.1:c.618del	NP_001338729.1:p.Ser207ValfsTer?
NR_147784.1:n.997del
XM_011522479.2:c.960del	XP_011520781.1:p.Ser321ValfsTer?
XM_011522481.3:c.618del	XP_011520783.1:p.Ser207ValfsTer?
XM_011522482.3:c.960del	XP_011520784.1:p.Ser321ValfsTer?
XM_017023212.1:c.960del	XP_016878701.1:p.Ser321ValfsTer?
XM_017023214.1:c.960del	XP_016878703.1:p.Ser321ValfsTer?
XM_024450261.1:c.996del	XP_024306029.1:p.Ser333ValfsTer?
XR_932836.2:n.1141del
XR_932837.3:n.1141del
XR_932838.3:n.1141del
NM_001171.6:c.960del MANE Select	NP_001162.5:p.Ser321ValfsTer?

Search 100 bp 5'

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