Canonical Allele Identifier: CA2582773713

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12899177_12899183del , CM000681.2:g.12899177_12899183del GRCh38
NC_000019.9:g.13009991_13009997del , CM000681.1:g.13009991_13009997del GRCh37
NC_000019.8:g.12870991_12870997del NCBI36
NG_009292.1:g.13018_13024del
NG_033049.1:g.25092_25098del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1244-291_1244-285del (GCDH) MANE Select ENSP00000222214.4:n.1244-291_1244-285del
ENST00000293695.8:c.*160_*166del (SYCE2) MANE Select ENSP00000293695.6:n.*160_*166del
ENST00000222214.9:c.1244-291_1244-285del (GCDH) ENSP00000222214.4:n.1244-291_1244-285del
ENST00000293695.7:c.*160_*166del (SYCE2) ENSP00000293695.6:n.*160_*166del
ENST00000585420.5:n.1574-291_1574-285del (GCDH)
ENST00000590530.5:c.*684-291_*684-285del (GCDH) ENSP00000468452.1:n.*684-291_*684-285del
ENST00000591043.1:n.1554-291_1554-285del (GCDH)
ENST00000591050.1:c.210+1314_210+1320del (GCDH)
ENST00000591470.5:c.1244-291_1244-285del (GCDH) ENSP00000466845.1:n.1244-291_1244-285del
ENST00000592819.1:c.390_396del (SYCE2)
NM_000159.3:c.1244-291_1244-285del (GCDH) NP_000150.1:n.1244-291_1244-285del
NM_001105578.1:c.*160_*166del (SYCE2) NP_001099048.1:n.*160_*166del
NM_013976.3:c.1244-523_1244-517del (GCDH) NP_039663.1:n.1244-523_1244-517del
NR_102316.1:n.1407-291_1407-285del (GCDH)
NR_102317.1:n.1625-291_1625-285del (GCDH)
XM_006722721.2:c.1244-1057_1244-1051del (GCDH) XP_006722784.1:n.1244-1057_1244-1051del
XM_011527882.1:c.*160_*166del (SYCE2) XP_011526184.1:n.*160_*166del
XM_011527883.1:c.*227_*233del (SYCE2) XP_011526185.1:n.*227_*233del
XM_011527899.1:c.1243+1314_1243+1320del (GCDH) XP_011526201.1:n.1243+1314_1243+1320del
XM_011527900.1:c.1244-1057_1244-1051del (GCDH) XP_011526202.1:n.1244-1057_1244-1051del
XM_005259848.4:c.*227_*233del (SYCE2) XP_005259905.1:n.*227_*233del
XM_011527882.2:c.*160_*166del (SYCE2) XP_011526184.1:n.*160_*166del
XM_011527883.2:c.*227_*233del (SYCE2) XP_011526185.1:n.*227_*233del
XM_011527899.2:c.1243+1314_1243+1320del (GCDH) XP_011526201.1:n.1243+1314_1243+1320del
XM_011527900.2:c.1244-1057_1244-1051del (GCDH) XP_011526202.1:n.1244-1057_1244-1051del
XM_017026580.1:c.1244-1057_1244-1051del (GCDH) XP_016882069.1:n.1244-1057_1244-1051del
NM_000159.4:c.1244-291_1244-285del (GCDH) MANE Select NP_000150.1:n.1244-291_1244-285del
NM_001105578.2:c.*160_*166del (SYCE2) MANE Select NP_001099048.1:n.*160_*166del
NM_013976.4:c.1244-523_1244-517del (GCDH) NP_039663.1:n.1244-523_1244-517del
NM_013976.5:c.1244-523_1244-517del (GCDH) NP_039663.1:n.1244-523_1244-517del