Canonical Allele Identifier: CA716871809
Community Standard Title: NM_001369268.1(ACAN):c.1605-50del
Gene: ACAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88847861del , CM000677.2:g.88847861del GRCh38
NC_000015.9:g.89391092del , CM000677.1:g.89391092del GRCh37
NC_000015.8:g.87192096del NCBI36
NG_012794.1:g.49419del

Transcript Alleles

HGVS Amino-acid Change
NM_001369268.1:c.1605-50del MANE Select NP_001356197.1:n.1605-50del
ENST00000560601.4:c.1605-50del MANE Select ENSP00000453581.2:n.1605-50del
NM_001135.3:c.1605-50del NP_001126.3:n.1605-50del
NM_001135.4:c.1605-50del NP_001126.3:n.1605-50del
NM_013227.3:c.1605-50del NP_037359.3:n.1605-50del
NM_013227.4:c.1605-50del NP_037359.3:n.1605-50del
ENST00000352105.11:c.1605-50del ENSP00000341615.7:n.1605-50del
ENST00000439576.6:c.1605-50del ENSP00000387356.2:n.1605-50del
ENST00000439576.7:c.1605-50del ENSP00000387356.2:n.1605-50del
ENST00000558207.5:c.1605-50del ENSP00000453003.1:n.1605-50del
ENST00000559004.5:c.1605-50del ENSP00000453499.1:n.1605-50del
ENST00000561243.5:c.1605-50del ENSP00000453342.1:n.1605-50del
ENST00000561243.7:c.1605-50del ENSP00000453342.3:n.1605-50del
ENST00000617301.4:c.1605-50del ENSP00000484456.1:n.1605-50del
XM_006720419.1:c.1605-50del XP_006720482.1:n.1605-50del
XM_011521313.1:c.1605-50del XP_011519615.1:n.1605-50del
XM_011521314.1:c.1605-50del XP_011519616.1:n.1605-50del