Canonical Allele Identifier: CA2582773636

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12899103_12899104del , CM000681.2:g.12899103_12899104del GRCh38
NC_000019.9:g.13009917_13009918del , CM000681.1:g.13009917_13009918del GRCh37
NC_000019.8:g.12870917_12870918del NCBI36
NG_009292.1:g.12944_12945del
NG_033049.1:g.25169_25170del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1244-365_1244-364del (GCDH) MANE Select ENSP00000222214.4:n.1244-365_1244-364del
ENST00000293695.8:c.*237_*238del (SYCE2) MANE Select ENSP00000293695.6:n.*237_*238del
ENST00000222214.9:c.1244-365_1244-364del (GCDH) ENSP00000222214.4:n.1244-365_1244-364del
ENST00000293695.7:c.*237_*238del (SYCE2) ENSP00000293695.6:n.*237_*238del
ENST00000585420.5:n.1574-365_1574-364del (GCDH)
ENST00000590530.5:c.*684-365_*684-364del (GCDH) ENSP00000468452.1:n.*684-365_*684-364del
ENST00000591043.1:n.1554-365_1554-364del (GCDH)
ENST00000591050.1:c.210+1240_210+1241del (GCDH)
ENST00000591470.5:c.1244-365_1244-364del (GCDH) ENSP00000466845.1:n.1244-365_1244-364del
ENST00000592819.1:c.467_468del (SYCE2)
NM_000159.3:c.1244-365_1244-364del (GCDH) NP_000150.1:n.1244-365_1244-364del
NM_001105578.1:c.*237_*238del (SYCE2) NP_001099048.1:n.*237_*238del
NM_013976.3:c.1244-597_1244-596del (GCDH) NP_039663.1:n.1244-597_1244-596del
NR_102316.1:n.1407-365_1407-364del (GCDH)
NR_102317.1:n.1625-365_1625-364del (GCDH)
XM_006722721.2:c.1244-1131_1244-1130del (GCDH) XP_006722784.1:n.1244-1131_1244-1130del
XM_011527882.1:c.*237_*238del (SYCE2) XP_011526184.1:n.*237_*238del
XM_011527883.1:c.*304_*305del (SYCE2) XP_011526185.1:n.*304_*305del
XM_011527899.1:c.1243+1240_1243+1241del (GCDH) XP_011526201.1:n.1243+1240_1243+1241del
XM_011527900.1:c.1244-1131_1244-1130del (GCDH) XP_011526202.1:n.1244-1131_1244-1130del
XM_005259848.4:c.*304_*305del (SYCE2) XP_005259905.1:n.*304_*305del
XM_011527882.2:c.*237_*238del (SYCE2) XP_011526184.1:n.*237_*238del
XM_011527883.2:c.*304_*305del (SYCE2) XP_011526185.1:n.*304_*305del
XM_011527899.2:c.1243+1240_1243+1241del (GCDH) XP_011526201.1:n.1243+1240_1243+1241del
XM_011527900.2:c.1244-1131_1244-1130del (GCDH) XP_011526202.1:n.1244-1131_1244-1130del
XM_017026580.1:c.1244-1131_1244-1130del (GCDH) XP_016882069.1:n.1244-1131_1244-1130del
NM_000159.4:c.1244-365_1244-364del (GCDH) MANE Select NP_000150.1:n.1244-365_1244-364del
NM_001105578.2:c.*237_*238del (SYCE2) MANE Select NP_001099048.1:n.*237_*238del
NM_013976.4:c.1244-597_1244-596del (GCDH) NP_039663.1:n.1244-597_1244-596del
NM_013976.5:c.1244-597_1244-596del (GCDH) NP_039663.1:n.1244-597_1244-596del