Allele Registry

Canonical Allele Identifier: CA278675288

Gene: ABCC6 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr16:g.16150646del

GRCh37 chr16:g.16244503del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000499070

ClinVar Variation:

433362

dbSNP:

72664239

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150648del , CM000678.2:g.16150648del	GRCh38
NC_000016.9:g.16244505del , CM000678.1:g.16244505del	GRCh37
NC_000016.8:g.16152006del	NCBI36
NG_007558.2:g.77826del
NG_007558.3:g.77972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*507del	ENSP00000483331.2:n.*507del
ENST00000205557.12:c.4335del MANE Select	ENSP00000205557.7:p.Ser1446AlafsTer18
ENST00000640696.1:c.1149del	ENSP00000492197.1:p.Ser384AlafsTer18
ENST00000205557.11:c.4335del	ENSP00000205557.7:p.Ser1446AlafsTer18
ENST00000456970.6:c.3960del	ENSP00000405002.2:n.3960del
ENST00000576204.5:n.1198del
ENST00000622290.4:c.*1544del	ENSP00000483331.1:n.*1544del
NM_001171.5:c.4335del	NP_001162.4:p.Ser1446AlafsTer18
XM_011522479.1:c.4302del	XP_011520781.1:p.Ser1435AlafsTer18
XM_011522480.1:c.3993del	XP_011520782.1:p.Ser1332AlafsTer18
XM_011522481.1:c.3993del	XP_011520783.1:p.Ser1332AlafsTer18
XR_933134.1:n.538+6358del
NM_001351800.1:c.3993del	NP_001338729.1:p.Ser1332AlafsTer18
NR_147784.1:n.3997del
XM_011522479.2:c.4302del	XP_011520781.1:p.Ser1435AlafsTer18
XM_011522481.3:c.3993del	XP_011520783.1:p.Ser1332AlafsTer18
XM_017023212.1:c.4167del	XP_016878701.1:p.Ser1390AlafsTer18
XM_024450261.1:c.4371del	XP_024306029.1:p.Ser1458AlafsTer18
NM_001171.6:c.4335del MANE Select	NP_001162.5:p.Ser1446AlafsTer18

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