Canonical Allele Identifier: CA2582773803

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12899311_12899312del , CM000681.2:g.12899311_12899312del GRCh38
NC_000019.9:g.13010125_13010126del , CM000681.1:g.13010125_13010126del GRCh37
NC_000019.8:g.12871125_12871126del NCBI36
NG_009292.1:g.13152_13153del
NG_033049.1:g.24962_24963del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1244-157_1244-156del (GCDH) MANE Select ENSP00000222214.4:n.1244-157_1244-156del
ENST00000293695.8:c.*30_*31del (SYCE2) MANE Select ENSP00000293695.6:n.*30_*31del
ENST00000222214.9:c.1244-157_1244-156del (GCDH) ENSP00000222214.4:n.1244-157_1244-156del
ENST00000293695.7:c.*30_*31del (SYCE2) ENSP00000293695.6:n.*30_*31del
ENST00000585420.5:n.1574-157_1574-156del (GCDH)
ENST00000590530.5:c.*684-157_*684-156del (GCDH) ENSP00000468452.1:n.*684-157_*684-156del
ENST00000591043.1:n.1554-157_1554-156del (GCDH)
ENST00000591050.1:c.210+1448_210+1449del (GCDH)
ENST00000591470.5:c.1244-157_1244-156del (GCDH) ENSP00000466845.1:n.1244-157_1244-156del
ENST00000592819.1:c.260_261del (SYCE2)
NM_000159.3:c.1244-157_1244-156del (GCDH) NP_000150.1:n.1244-157_1244-156del
NM_001105578.1:c.*30_*31del (SYCE2) NP_001099048.1:n.*30_*31del
NM_013976.3:c.1244-389_1244-388del (GCDH) NP_039663.1:n.1244-389_1244-388del
NR_102316.1:n.1407-157_1407-156del (GCDH)
NR_102317.1:n.1625-157_1625-156del (GCDH)
XM_005259848.3:c.*97_*98del (SYCE2) XP_005259905.1:n.*97_*98del
XM_006722721.2:c.1244-923_1244-922del (GCDH) XP_006722784.1:n.1244-923_1244-922del
XM_011527882.1:c.*30_*31del (SYCE2) XP_011526184.1:n.*30_*31del
XM_011527883.1:c.*97_*98del (SYCE2) XP_011526185.1:n.*97_*98del
XM_011527899.1:c.1243+1448_1243+1449del (GCDH) XP_011526201.1:n.1243+1448_1243+1449del
XM_011527900.1:c.1244-923_1244-922del (GCDH) XP_011526202.1:n.1244-923_1244-922del
XM_005259848.4:c.*97_*98del (SYCE2) XP_005259905.1:n.*97_*98del
XM_011527882.2:c.*30_*31del (SYCE2) XP_011526184.1:n.*30_*31del
XM_011527883.2:c.*97_*98del (SYCE2) XP_011526185.1:n.*97_*98del
XM_011527899.2:c.1243+1448_1243+1449del (GCDH) XP_011526201.1:n.1243+1448_1243+1449del
XM_011527900.2:c.1244-923_1244-922del (GCDH) XP_011526202.1:n.1244-923_1244-922del
XM_017026580.1:c.1244-923_1244-922del (GCDH) XP_016882069.1:n.1244-923_1244-922del
NM_000159.4:c.1244-157_1244-156del (GCDH) MANE Select NP_000150.1:n.1244-157_1244-156del
NM_001105578.2:c.*30_*31del (SYCE2) MANE Select NP_001099048.1:n.*30_*31del
NM_013976.4:c.1244-389_1244-388del (GCDH) NP_039663.1:n.1244-389_1244-388del
NM_013976.5:c.1244-389_1244-388del (GCDH) NP_039663.1:n.1244-389_1244-388del