Canonical Allele Identifier: CA993682322

Gene: GCDH

Linked Data

• gnomAD v3: 19-12896268-TCGGGG-T
• gnomAD v4: 19-12896268-TCGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896270_12896274del , CM000681.2:g.12896270_12896274del	GRCh38
NC_000019.9:g.13007084_13007088del , CM000681.1:g.13007084_13007088del	GRCh37
NC_000019.8:g.12868084_12868088del	NCBI36
NG_009292.1:g.10111_10115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.701_705del MANE Select	ENSP00000222214.4:p.Arg234LeufsTer?
ENST00000222214.9:c.701_705del	ENSP00000222214.4:p.Arg234LeufsTer?
ENST00000421816.6:n.679_683del
ENST00000585420.5:n.1031_1035del
ENST00000590530.5:c.*141_*145del	ENSP00000468452.1:n.*141_*145del
ENST00000591043.1:n.737_741del
ENST00000591470.5:c.701_705del	ENSP00000466845.1:p.Arg234LeufsTer?
NM_000159.3:c.701_705del	NP_000150.1:p.Arg234LeufsTer?
NM_013976.3:c.701_705del	NP_039663.1:p.Arg234LeufsTer?
NR_102316.1:n.864_868del
NR_102317.1:n.1082_1086del
XM_006722721.2:c.701_705del	XP_006722784.1:p.Arg234LeufsTer?
XM_011527899.1:c.701_705del	XP_011526201.1:p.Arg234LeufsTer?
XM_011527900.1:c.701_705del	XP_011526202.1:p.Arg234LeufsTer?
XM_011527899.2:c.701_705del	XP_011526201.1:p.Arg234LeufsTer?
XM_011527900.2:c.701_705del	XP_011526202.1:p.Arg234LeufsTer?
XM_017026580.1:c.701_705del	XP_016882069.1:p.Arg234LeufsTer?
NM_000159.4:c.701_705del MANE Select	NP_000150.1:p.Arg234LeufsTer?
NM_013976.4:c.701_705del	NP_039663.1:p.Arg234LeufsTer?
NM_013976.5:c.701_705del	NP_039663.1:p.Arg234LeufsTer?