Canonical Allele Identifier: CA658798306
Gene: CDAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 517361
ClinVar RCV Id: RCV000616172
dbSNP Id: rs1555415486

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42731279_42731280delinsTCTTCAAGCCCAGGGCAAGA , CM000677.2:g.42731279_42731280delinsTCTTCAAGCCCAGGGCAAGA GRCh38
NC_000015.9:g.43023477_43023478delinsTCTTCAAGCCCAGGGCAAGA , CM000677.1:g.43023477_43023478delinsTCTTCAAGCCCAGGGCAAGA GRCh37
NC_000015.8:g.40810769_40810770delinsTCTTCAAGCCCAGGGCAAGA NCBI36
NG_012491.1:g.10940_10941delinsTCTTGCCCTGGGCTTGAAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000356231.4:c.1791_1792delinsTCTTGCCCTGGGCTTGAAGA MANE Select ENSP00000348564.3:p.Glu597_Leu598delinsAs...
ENST00000643434.1:c.*969_*970delinsTCTTGCCCTGGGCTTGAAGA ENSP00000494699.1:n.*969_*970delinsTCTTGC...
ENST00000356231.3:c.1791_1792delinsTCTTGCCCTGGGCTTGAAGA ENSP00000348564.3:p.Glu597_Leu598delinsAs...
NM_138477.2:c.1791_1792delinsTCTTGCCCTGGGCTTGAAGA NP_612486.2:p.Glu597_Leu598delinsAspLeuAl...
XM_005254176.3:c.1794_1795delinsTCTTGCCCTGGGCTTGAAGA XP_005254233.1:p.Glu598_Leu599delinsAspLe...
XM_011521270.1:c.1818_1819delinsTCTTGCCCTGGGCTTGAAGA XP_011519572.1:p.Glu606_Leu607delinsAspLe...
XM_011521271.1:c.1815_1816delinsTCTTGCCCTGGGCTTGAAGA XP_011519573.1:p.Glu605_Leu606delinsAspLe...
XM_011521272.1:c.1818_1819delinsTCTTGCCCTGGGCTTGAAGA XP_011519574.1:p.Glu606_Leu607delinsAspLe...
XM_011521273.1:c.1818_1819delinsTCTTGCCCTGGGCTTGAAGA XP_011519575.1:p.Glu606_Leu607delinsAspLe...
XM_011521274.1:c.783_784delinsTCTTGCCCTGGGCTTGAAGA XP_011519576.1:p.Glu261_Leu262delinsAspLe...
XM_011521275.1:c.1035_1036delinsTCTTGCCCTGGGCTTGAAGA XP_011519577.1:p.Glu345_Leu346delinsAspLe...
XR_931757.1:n.1829_1830delinsTCTTGCCCTGGGCTTGAAGA
NM_138477.4:c.1791_1792delinsTCTTGCCCTGGGCTTGAAGA MANE Select NP_612486.2:p.Glu597_Leu598delinsAspLeuAl...
XM_005254176.5:c.1794_1795delinsTCTTGCCCTGGGCTTGAAGA XP_005254233.1:p.Glu598_Leu599delinsAspLe...
XM_011521270.2:c.1818_1819delinsTCTTGCCCTGGGCTTGAAGA XP_011519572.1:p.Glu606_Leu607delinsAspLe...
XM_011521271.2:c.1815_1816delinsTCTTGCCCTGGGCTTGAAGA XP_011519573.1:p.Glu605_Leu606delinsAspLe...
XM_011521274.2:c.783_784delinsTCTTGCCCTGGGCTTGAAGA XP_011519576.1:p.Glu261_Leu262delinsAspLe...
XR_001751104.1:n.1848_1849delinsTCTTGCCCTGGGCTTGAAGA
XR_001751105.1:n.1848_1849delinsTCTTGCCCTGGGCTTGAAGA
XR_931757.2:n.1849_1850delinsTCTTGCCCTGGGCTTGAAGA