Canonical Allele Identifier: CA2582773747

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12899210_12899211dup , CM000681.2:g.12899210_12899211dup GRCh38
NC_000019.9:g.13010024_13010025dup , CM000681.1:g.13010024_13010025dup GRCh37
NC_000019.8:g.12871024_12871025dup NCBI36
NG_009292.1:g.13051_13052dup
NG_033049.1:g.25063_25064dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1244-258_1244-257dup (GCDH) MANE Select ENSP00000222214.4:n.1244-258_1244-257dup
ENST00000293695.8:c.*131_*132dup (SYCE2) MANE Select ENSP00000293695.6:n.*131_*132dup
ENST00000222214.9:c.1244-258_1244-257dup (GCDH) ENSP00000222214.4:n.1244-258_1244-257dup
ENST00000293695.7:c.*131_*132dup (SYCE2) ENSP00000293695.6:n.*131_*132dup
ENST00000585420.5:n.1574-258_1574-257dup (GCDH)
ENST00000590530.5:c.*684-258_*684-257dup (GCDH) ENSP00000468452.1:n.*684-258_*684-257dup
ENST00000591043.1:n.1554-258_1554-257dup (GCDH)
ENST00000591050.1:c.210+1347_210+1348dup (GCDH)
ENST00000591470.5:c.1244-258_1244-257dup (GCDH) ENSP00000466845.1:n.1244-258_1244-257dup
ENST00000592819.1:c.361_362dup (SYCE2)
NM_000159.3:c.1244-258_1244-257dup (GCDH) NP_000150.1:n.1244-258_1244-257dup
NM_001105578.1:c.*131_*132dup (SYCE2) NP_001099048.1:n.*131_*132dup
NM_013976.3:c.1244-490_1244-489dup (GCDH) NP_039663.1:n.1244-490_1244-489dup
NR_102316.1:n.1407-258_1407-257dup (GCDH)
NR_102317.1:n.1625-258_1625-257dup (GCDH)
XM_006722721.2:c.1244-1024_1244-1023dup (GCDH) XP_006722784.1:n.1244-1024_1244-1023dup
XM_011527882.1:c.*131_*132dup (SYCE2) XP_011526184.1:n.*131_*132dup
XM_011527883.1:c.*198_*199dup (SYCE2) XP_011526185.1:n.*198_*199dup
XM_011527899.1:c.1243+1347_1243+1348dup (GCDH) XP_011526201.1:n.1243+1347_1243+1348dup
XM_011527900.1:c.1244-1024_1244-1023dup (GCDH) XP_011526202.1:n.1244-1024_1244-1023dup
XM_005259848.4:c.*198_*199dup (SYCE2) XP_005259905.1:n.*198_*199dup
XM_011527882.2:c.*131_*132dup (SYCE2) XP_011526184.1:n.*131_*132dup
XM_011527883.2:c.*198_*199dup (SYCE2) XP_011526185.1:n.*198_*199dup
XM_011527899.2:c.1243+1347_1243+1348dup (GCDH) XP_011526201.1:n.1243+1347_1243+1348dup
XM_011527900.2:c.1244-1024_1244-1023dup (GCDH) XP_011526202.1:n.1244-1024_1244-1023dup
XM_017026580.1:c.1244-1024_1244-1023dup (GCDH) XP_016882069.1:n.1244-1024_1244-1023dup
NM_000159.4:c.1244-258_1244-257dup (GCDH) MANE Select NP_000150.1:n.1244-258_1244-257dup
NM_001105578.2:c.*131_*132dup (SYCE2) MANE Select NP_001099048.1:n.*131_*132dup
NM_013976.4:c.1244-490_1244-489dup (GCDH) NP_039663.1:n.1244-490_1244-489dup
NM_013976.5:c.1244-490_1244-489dup (GCDH) NP_039663.1:n.1244-490_1244-489dup