Allele Registry

Canonical Allele Identifier: CA123854

Gene: ACAN HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr15:g.88856343dupC

GRCh37 chr15:g.89399574dupC

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000015374

ClinVar Variation:

14304

dbSNP:

387906534

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88856343dup , CM000677.2:g.88856343dup	GRCh38
NC_000015.9:g.89399574dup , CM000677.1:g.89399574dup	GRCh37
NC_000015.8:g.87200578dup	NCBI36
NG_012794.1:g.57901dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439576.7:c.3758dup	ENSP00000387356.2:p.Gly1254TrpfsTer?
ENST00000560601.4:c.3758dup MANE Select	ENSP00000453581.2:p.Gly1254TrpfsTer?
ENST00000561243.7:c.3758dup	ENSP00000453342.3:p.Gly1254TrpfsTer?
ENST00000352105.11:c.3758dup	ENSP00000341615.7:p.Gly1254TrpfsTer?
ENST00000439576.6:c.3758dup	ENSP00000387356.2:p.Gly1254TrpfsTer?
ENST00000559004.5:c.3758dup	ENSP00000453499.1:p.Gly1254TrpfsTer?
ENST00000561243.5:c.3758dup	ENSP00000453342.1:p.Gly1254TrpfsTer?
ENST00000617301.4:c.3701dup	ENSP00000484456.1:p.Gly1235TrpfsTer?
NM_001135.3:c.3758dup	NP_001126.3:p.Gly1254TrpfsTer?
NM_013227.3:c.3758dup	NP_037359.3:p.Gly1254TrpfsTer?
XM_006720419.1:c.3758dup	XP_006720482.1:p.Gly1254TrpfsTer?
XM_011521313.1:c.3758dup	XP_011519615.1:p.Gly1254TrpfsTer?
XM_011521314.1:c.3758dup	XP_011519616.1:p.Gly1254TrpfsTer?
NM_001369268.1:c.3758dup MANE Select	NP_001356197.1:p.Gly1254TrpfsTer?
NM_001135.4:c.3758dup	NP_001126.3:p.Gly1254TrpfsTer?
NM_013227.4:c.3758dup	NP_037359.3:p.Gly1254TrpfsTer?

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