Canonical Allele Identifier: CA2323624909

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12899449_12899451delinsCTG , CM000681.2:g.12899449_12899451delinsCTG GRCh38
NC_000019.9:g.13010263_13010265delinsCTG , CM000681.1:g.13010263_13010265delinsCTG GRCh37
NC_000019.8:g.12871263_12871265delinsCTG NCBI36
NG_009292.1:g.13290_13292delinsCTG
NG_033049.1:g.24822_24824delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1244-19_1244-17delinsCTG (GCDH) MANE Select ENSP00000222214.4:n.1244-19_1244-17delinsCTG
ENST00000293695.8:c.613-66_613-64delinsCAG (SYCE2) MANE Select ENSP00000293695.6:n.613-66_613-64delinsCAG
ENST00000222214.9:c.1244-19_1244-17delinsCTG (GCDH) ENSP00000222214.4:n.1244-19_1244-17delinsCTG
ENST00000293695.7:c.613-66_613-64delinsCAG (SYCE2) ENSP00000293695.6:n.613-66_613-64delinsCAG
ENST00000585420.5:n.1574-19_1574-17delinsCTG (GCDH)
ENST00000590530.5:c.*684-19_*684-17delinsCTG (GCDH) ENSP00000468452.1:n.*684-19_*684-17delinsCTG
ENST00000591043.1:n.1554-19_1554-17delinsCTG (GCDH)
ENST00000591050.1:c.210+1586_210+1588delinsCTG (GCDH)
ENST00000591470.5:c.1244-19_1244-17delinsCTG (GCDH) ENSP00000466845.1:n.1244-19_1244-17delinsCTG
ENST00000592819.1:c.186-66_186-64delinsCAG (SYCE2)
NM_000159.3:c.1244-19_1244-17delinsCTG (GCDH) NP_000150.1:n.1244-19_1244-17delinsCTG
NM_001105578.1:c.613-66_613-64delinsCAG (SYCE2) NP_001099048.1:n.613-66_613-64delinsCAG
NM_013976.3:c.1244-251_1244-249delinsCTG (GCDH) NP_039663.1:n.1244-251_1244-249delinsCTG
NR_102316.1:n.1407-19_1407-17delinsCTG (GCDH)
NR_102317.1:n.1625-19_1625-17delinsCTG (GCDH)
XM_005259848.3:c.*23-66_*23-64delinsCAG (SYCE2) XP_005259905.1:n.*23-66_*23-64delinsCAG
XM_006722721.2:c.1244-785_1244-783delinsCTG (GCDH) XP_006722784.1:n.1244-785_1244-783delinsCTG
XM_011527882.1:c.610-66_610-64delinsCAG (SYCE2) XP_011526184.1:n.610-66_610-64delinsCAG
XM_011527883.1:c.*23-66_*23-64delinsCAG (SYCE2) XP_011526185.1:n.*23-66_*23-64delinsCAG
XM_011527899.1:c.1243+1586_1243+1588delinsCTG (GCDH) XP_011526201.1:n.1243+1586_1243+1588delinsCTG
XM_011527900.1:c.1244-785_1244-783delinsCTG (GCDH) XP_011526202.1:n.1244-785_1244-783delinsCTG
XM_005259848.4:c.*23-66_*23-64delinsCAG (SYCE2) XP_005259905.1:n.*23-66_*23-64delinsCAG
XM_011527882.2:c.610-66_610-64delinsCAG (SYCE2) XP_011526184.1:n.610-66_610-64delinsCAG
XM_011527883.2:c.*23-66_*23-64delinsCAG (SYCE2) XP_011526185.1:n.*23-66_*23-64delinsCAG
XM_011527899.2:c.1243+1586_1243+1588delinsCTG (GCDH) XP_011526201.1:n.1243+1586_1243+1588delinsCTG
XM_011527900.2:c.1244-785_1244-783delinsCTG (GCDH) XP_011526202.1:n.1244-785_1244-783delinsCTG
XM_017026580.1:c.1244-785_1244-783delinsCTG (GCDH) XP_016882069.1:n.1244-785_1244-783delinsCTG
NM_000159.4:c.1244-19_1244-17delinsCTG (GCDH) MANE Select NP_000150.1:n.1244-19_1244-17delinsCTG
NM_001105578.2:c.613-66_613-64delinsCAG (SYCE2) MANE Select NP_001099048.1:n.613-66_613-64delinsCAG
NM_013976.4:c.1244-251_1244-249delinsCTG (GCDH) NP_039663.1:n.1244-251_1244-249delinsCTG
NM_013976.5:c.1244-251_1244-249delinsCTG (GCDH) NP_039663.1:n.1244-251_1244-249delinsCTG