Canonical Allele Identifier: CA2323624832

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12899289_12899291delinsTCA , CM000681.2:g.12899289_12899291delinsTCA GRCh38
NC_000019.9:g.13010103_13010105delinsTCA , CM000681.1:g.13010103_13010105delinsTCA GRCh37
NC_000019.8:g.12871103_12871105delinsTCA NCBI36
NG_009292.1:g.13130_13132delinsTCA
NG_033049.1:g.24982_24984delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1244-179_1244-177delinsTCA (GCDH) MANE Select ENSP00000222214.4:n.1244-179_1244-177delinsTCA
ENST00000293695.8:c.*50_*52delinsTGA (SYCE2) MANE Select ENSP00000293695.6:n.*50_*52delinsTGA
ENST00000222214.9:c.1244-179_1244-177delinsTCA (GCDH) ENSP00000222214.4:n.1244-179_1244-177delinsTCA
ENST00000293695.7:c.*50_*52delinsTGA (SYCE2) ENSP00000293695.6:n.*50_*52delinsTGA
ENST00000585420.5:n.1574-179_1574-177delinsTCA (GCDH)
ENST00000590530.5:c.*684-179_*684-177delinsTCA (GCDH) ENSP00000468452.1:n.*684-179_*684-177delinsTCA
ENST00000591043.1:n.1554-179_1554-177delinsTCA (GCDH)
ENST00000591050.1:c.210+1426_210+1428delinsTCA (GCDH)
ENST00000591470.5:c.1244-179_1244-177delinsTCA (GCDH) ENSP00000466845.1:n.1244-179_1244-177delinsTCA
ENST00000592819.1:c.280_282delinsTGA (SYCE2)
NM_000159.3:c.1244-179_1244-177delinsTCA (GCDH) NP_000150.1:n.1244-179_1244-177delinsTCA
NM_001105578.1:c.*50_*52delinsTGA (SYCE2) NP_001099048.1:n.*50_*52delinsTGA
NM_013976.3:c.1244-411_1244-409delinsTCA (GCDH) NP_039663.1:n.1244-411_1244-409delinsTCA
NR_102316.1:n.1407-179_1407-177delinsTCA (GCDH)
NR_102317.1:n.1625-179_1625-177delinsTCA (GCDH)
XM_006722721.2:c.1244-945_1244-943delinsTCA (GCDH) XP_006722784.1:n.1244-945_1244-943delinsTCA
XM_011527882.1:c.*50_*52delinsTGA (SYCE2) XP_011526184.1:n.*50_*52delinsTGA
XM_011527883.1:c.*117_*119delinsTGA (SYCE2) XP_011526185.1:n.*117_*119delinsTGA
XM_011527899.1:c.1243+1426_1243+1428delinsTCA (GCDH) XP_011526201.1:n.1243+1426_1243+1428delinsTCA
XM_011527900.1:c.1244-945_1244-943delinsTCA (GCDH) XP_011526202.1:n.1244-945_1244-943delinsTCA
XM_005259848.4:c.*117_*119delinsTGA (SYCE2) XP_005259905.1:n.*117_*119delinsTGA
XM_011527882.2:c.*50_*52delinsTGA (SYCE2) XP_011526184.1:n.*50_*52delinsTGA
XM_011527883.2:c.*117_*119delinsTGA (SYCE2) XP_011526185.1:n.*117_*119delinsTGA
XM_011527899.2:c.1243+1426_1243+1428delinsTCA (GCDH) XP_011526201.1:n.1243+1426_1243+1428delinsTCA
XM_011527900.2:c.1244-945_1244-943delinsTCA (GCDH) XP_011526202.1:n.1244-945_1244-943delinsTCA
XM_017026580.1:c.1244-945_1244-943delinsTCA (GCDH) XP_016882069.1:n.1244-945_1244-943delinsTCA
NM_000159.4:c.1244-179_1244-177delinsTCA (GCDH) MANE Select NP_000150.1:n.1244-179_1244-177delinsTCA
NM_001105578.2:c.*50_*52delinsTGA (SYCE2) MANE Select NP_001099048.1:n.*50_*52delinsTGA
NM_013976.4:c.1244-411_1244-409delinsTCA (GCDH) NP_039663.1:n.1244-411_1244-409delinsTCA
NM_013976.5:c.1244-411_1244-409delinsTCA (GCDH) NP_039663.1:n.1244-411_1244-409delinsTCA