Canonical Allele Identifier: CA993682221
Gene: GCDH HGNC NCBI

Linked Data

gnomAD v3: 19-12896242-T-TA
gnomAD v4: 19-12896242-T-TA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896242_12896243insA , CM000681.2:g.12896242_12896243insA GRCh38
NC_000019.9:g.13007056_13007057insA , CM000681.1:g.13007056_13007057insA GRCh37
NC_000019.8:g.12868056_12868057insA NCBI36
NG_009292.1:g.10083_10084insA

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.673_674insA MANE Select ENSP00000222214.4:p.Trp225Ter
ENST00000222214.9:c.673_674insA ENSP00000222214.4:p.Trp225Ter
ENST00000421816.6:n.651_652insA
ENST00000585420.5:n.1003_1004insA
ENST00000590530.5:c.*113_*114insA ENSP00000468452.1:n.*113_*114insA
ENST00000591043.1:n.709_710insA
ENST00000591470.5:c.673_674insA ENSP00000466845.1:p.Trp225Ter
NM_000159.3:c.673_674insA NP_000150.1:p.Trp225Ter
NM_013976.3:c.673_674insA NP_039663.1:p.Trp225Ter
NR_102316.1:n.836_837insA
NR_102317.1:n.1054_1055insA
XM_006722721.2:c.673_674insA XP_006722784.1:p.Trp225Ter
XM_011527899.1:c.673_674insA XP_011526201.1:p.Trp225Ter
XM_011527900.1:c.673_674insA XP_011526202.1:p.Trp225Ter
XM_011527899.2:c.673_674insA XP_011526201.1:p.Trp225Ter
XM_011527900.2:c.673_674insA XP_011526202.1:p.Trp225Ter
XM_017026580.1:c.673_674insA XP_016882069.1:p.Trp225Ter
NM_000159.4:c.673_674insA MANE Select NP_000150.1:p.Trp225Ter
NM_013976.4:c.673_674insA NP_039663.1:p.Trp225Ter
NM_013976.5:c.673_674insA NP_039663.1:p.Trp225Ter
Search 100 bp 5'
Search 100 bp 3'