Canonical Allele Identifier: CA2582773787

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12899268_12899269del , CM000681.2:g.12899268_12899269del GRCh38
NC_000019.9:g.13010082_13010083del , CM000681.1:g.13010082_13010083del GRCh37
NC_000019.8:g.12871082_12871083del NCBI36
NG_009292.1:g.13109_13110del
NG_033049.1:g.25004_25005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1244-200_1244-199del (GCDH) MANE Select ENSP00000222214.4:n.1244-200_1244-199del
ENST00000293695.8:c.*72_*73del (SYCE2) MANE Select ENSP00000293695.6:n.*72_*73del
ENST00000222214.9:c.1244-200_1244-199del (GCDH) ENSP00000222214.4:n.1244-200_1244-199del
ENST00000293695.7:c.*72_*73del (SYCE2) ENSP00000293695.6:n.*72_*73del
ENST00000585420.5:n.1574-200_1574-199del (GCDH)
ENST00000590530.5:c.*684-200_*684-199del (GCDH) ENSP00000468452.1:n.*684-200_*684-199del
ENST00000591043.1:n.1554-200_1554-199del (GCDH)
ENST00000591050.1:c.210+1405_210+1406del (GCDH)
ENST00000591470.5:c.1244-200_1244-199del (GCDH) ENSP00000466845.1:n.1244-200_1244-199del
ENST00000592819.1:c.302_303del (SYCE2)
NM_000159.3:c.1244-200_1244-199del (GCDH) NP_000150.1:n.1244-200_1244-199del
NM_001105578.1:c.*72_*73del (SYCE2) NP_001099048.1:n.*72_*73del
NM_013976.3:c.1244-432_1244-431del (GCDH) NP_039663.1:n.1244-432_1244-431del
NR_102316.1:n.1407-200_1407-199del (GCDH)
NR_102317.1:n.1625-200_1625-199del (GCDH)
XM_006722721.2:c.1244-966_1244-965del (GCDH) XP_006722784.1:n.1244-966_1244-965del
XM_011527882.1:c.*72_*73del (SYCE2) XP_011526184.1:n.*72_*73del
XM_011527883.1:c.*139_*140del (SYCE2) XP_011526185.1:n.*139_*140del
XM_011527899.1:c.1243+1405_1243+1406del (GCDH) XP_011526201.1:n.1243+1405_1243+1406del
XM_011527900.1:c.1244-966_1244-965del (GCDH) XP_011526202.1:n.1244-966_1244-965del
XM_005259848.4:c.*139_*140del (SYCE2) XP_005259905.1:n.*139_*140del
XM_011527882.2:c.*72_*73del (SYCE2) XP_011526184.1:n.*72_*73del
XM_011527883.2:c.*139_*140del (SYCE2) XP_011526185.1:n.*139_*140del
XM_011527899.2:c.1243+1405_1243+1406del (GCDH) XP_011526201.1:n.1243+1405_1243+1406del
XM_011527900.2:c.1244-966_1244-965del (GCDH) XP_011526202.1:n.1244-966_1244-965del
XM_017026580.1:c.1244-966_1244-965del (GCDH) XP_016882069.1:n.1244-966_1244-965del
NM_000159.4:c.1244-200_1244-199del (GCDH) MANE Select NP_000150.1:n.1244-200_1244-199del
NM_001105578.2:c.*72_*73del (SYCE2) MANE Select NP_001099048.1:n.*72_*73del
NM_013976.4:c.1244-432_1244-431del (GCDH) NP_039663.1:n.1244-432_1244-431del
NM_013976.5:c.1244-432_1244-431del (GCDH) NP_039663.1:n.1244-432_1244-431del