Canonical Allele Identifier: CA2582772069

Gene: GCDH

Linked Data

• gnomAD v4: 19-12896089-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896090_12896091del , CM000681.2:g.12896090_12896091del	GRCh38
NC_000019.9:g.13006904_13006905del , CM000681.1:g.13006904_13006905del	GRCh37
NC_000019.8:g.12867904_12867905del	NCBI36
NG_009292.1:g.9931_9932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.604_605del MANE Select	ENSP00000222214.4:p.Lys202GlufsTer27
ENST00000222214.9:c.604_605del	ENSP00000222214.4:p.Lys202GlufsTer27
ENST00000421816.6:n.582_583del
ENST00000585420.5:n.969_970del
ENST00000590530.5:c.*44_*45del	ENSP00000468452.1:n.*44_*45del
ENST00000591043.1:n.640_641del
ENST00000591470.5:c.604_605del	ENSP00000466845.1:p.Lys202GlufsTer27
NM_000159.3:c.604_605del	NP_000150.1:p.Lys202GlufsTer27
NM_013976.3:c.604_605del	NP_039663.1:p.Lys202GlufsTer27
NR_102316.1:n.767_768del
NR_102317.1:n.1020_1021del
XM_006722721.2:c.604_605del	XP_006722784.1:p.Lys202GlufsTer27
XM_011527899.1:c.604_605del	XP_011526201.1:p.Lys202GlufsTer27
XM_011527900.1:c.604_605del	XP_011526202.1:p.Lys202GlufsTer27
XM_011527899.2:c.604_605del	XP_011526201.1:p.Lys202GlufsTer27
XM_011527900.2:c.604_605del	XP_011526202.1:p.Lys202GlufsTer27
XM_017026580.1:c.604_605del	XP_016882069.1:p.Lys202GlufsTer27
NM_000159.4:c.604_605del MANE Select	NP_000150.1:p.Lys202GlufsTer27
NM_013976.4:c.604_605del	NP_039663.1:p.Lys202GlufsTer27
NM_013976.5:c.604_605del	NP_039663.1:p.Lys202GlufsTer27