Canonical Allele Identifier: CA10605932

Gene: ACAN

Linked Data

• ClinVar Variation Id: 287983
• ClinVar RCV Id: RCV000302291
• dbSNP Id: rs1596130811
• MyVariant Identifiers: chr15:g.89382103_89382159del (hg19) ; chr15:g.88838872_88838928del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88838872_88838928del , CM000677.2:g.88838872_88838928del	GRCh38
NC_000015.9:g.89382103_89382159del , CM000677.1:g.89382103_89382159del	GRCh37
NC_000015.8:g.87183107_87183163del	NCBI36
NG_012794.1:g.40430_40486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439576.7:c.280_336del	ENSP00000387356.2:p.Val94_Ile112del
ENST00000560601.4:c.280_336del MANE Select	ENSP00000453581.2:p.Val94_Ile112del
ENST00000561243.7:c.280_336del	ENSP00000453342.3:p.Val94_Ile112del
ENST00000352105.11:c.280_336del	ENSP00000341615.7:p.Val94_Ile112del
ENST00000439576.6:c.280_336del	ENSP00000387356.2:p.Val94_Ile112del
ENST00000558207.5:c.280_336del	ENSP00000453003.1:p.Val94_Ile112del
ENST00000559004.5:c.280_336del	ENSP00000453499.1:p.Val94_Ile112del
ENST00000561243.5:c.280_336del	ENSP00000453342.1:p.Val94_Ile112del
ENST00000617301.4:c.280_336del	ENSP00000484456.1:p.Val94_Ile112del
NM_001135.3:c.280_336del	NP_001126.3:p.Val94_Ile112del
NM_013227.3:c.280_336del	NP_037359.3:p.Val94_Ile112del
XM_006720419.1:c.280_336del	XP_006720482.1:p.Val94_Ile112del
XM_011521313.1:c.280_336del	XP_011519615.1:p.Val94_Ile112del
XM_011521314.1:c.280_336del	XP_011519616.1:p.Val94_Ile112del
NM_001369268.1:c.280_336del MANE Select	NP_001356197.1:p.Val94_Ile112del
NM_001135.4:c.280_336del	NP_001126.3:p.Val94_Ile112del
NM_013227.4:c.280_336del	NP_037359.3:p.Val94_Ile112del