Canonical Allele Identifier: CA2695228270
Gene: GCDH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893487del , CM000681.2:g.12893487del GRCh38
NC_000019.9:g.13004301del , CM000681.1:g.13004301del GRCh37
NC_000019.8:g.12865301del NCBI36
NG_009292.1:g.7328del

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.339del MANE Select ENSP00000222214.4:p.Tyr113Ter
ENST00000222214.9:c.339del ENSP00000222214.4:p.Tyr113Ter
ENST00000421816.6:n.317del
ENST00000585420.5:n.704del
ENST00000587072.1:c.387del ENSP00000468584.1:p.Tyr129Ter
ENST00000587832.5:n.396del
ENST00000588905.5:c.303del ENSP00000465770.1:p.Tyr101Ter
ENST00000589039.5:c.276del ENSP00000465618.1:p.Tyr92Ter
ENST00000590530.5:c.394del ENSP00000468452.1:p.Trp132GlyfsTer?
ENST00000590627.5:n.704del
ENST00000591043.1:n.375del
ENST00000591470.5:c.339del ENSP00000466845.1:p.Tyr113Ter
NM_000159.3:c.339del NP_000150.1:p.Tyr113Ter
NM_013976.3:c.339del NP_039663.1:p.Tyr113Ter
NR_102316.1:n.502del
NR_102317.1:n.755del
XM_006722721.2:c.339del XP_006722784.1:p.Tyr113Ter
XM_011527899.1:c.339del XP_011526201.1:p.Tyr113Ter
XM_011527900.1:c.339del XP_011526202.1:p.Tyr113Ter
XM_011527899.2:c.339del XP_011526201.1:p.Tyr113Ter
XM_011527900.2:c.339del XP_011526202.1:p.Tyr113Ter
XM_017026580.1:c.339del XP_016882069.1:p.Tyr113Ter
NM_000159.4:c.339del MANE Select NP_000150.1:p.Tyr113Ter
NM_013976.4:c.339del NP_039663.1:p.Tyr113Ter
NM_013976.5:c.339del NP_039663.1:p.Tyr113Ter
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