Canonical Allele Identifier: CA2582772334

Gene: GCDH

Linked Data

• gnomAD v4: 19-12896954-GGGCGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896956_12896960del , CM000681.2:g.12896956_12896960del	GRCh38
NC_000019.9:g.13007770_13007774del , CM000681.1:g.13007770_13007774del	GRCh37
NC_000019.8:g.12868770_12868774del	NCBI36
NG_009292.1:g.10797_10801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.899_903del MANE Select	ENSP00000222214.4:p.Gly300AlafsTer?
ENST00000222214.9:c.899_903del	ENSP00000222214.4:p.Gly300AlafsTer?
ENST00000421816.6:n.877_881del
ENST00000585420.5:n.1229_1233del
ENST00000590530.5:c.*339_*343del	ENSP00000468452.1:n.*339_*343del
ENST00000591043.1:n.935_939del
ENST00000591470.5:c.899_903del	ENSP00000466845.1:p.Gly300AlafsTer?
NM_000159.3:c.899_903del	NP_000150.1:p.Gly300AlafsTer?
NM_013976.3:c.899_903del	NP_039663.1:p.Gly300AlafsTer?
NR_102316.1:n.1062_1066del
NR_102317.1:n.1280_1284del
XM_006722721.2:c.899_903del	XP_006722784.1:p.Gly300AlafsTer?
XM_011527899.1:c.899_903del	XP_011526201.1:p.Gly300AlafsTer?
XM_011527900.1:c.899_903del	XP_011526202.1:p.Gly300AlafsTer?
XM_011527899.2:c.899_903del	XP_011526201.1:p.Gly300AlafsTer?
XM_011527900.2:c.899_903del	XP_011526202.1:p.Gly300AlafsTer?
XM_017026580.1:c.899_903del	XP_016882069.1:p.Gly300AlafsTer?
NM_000159.4:c.899_903del MANE Select	NP_000150.1:p.Gly300AlafsTer?
NM_013976.4:c.899_903del	NP_039663.1:p.Gly300AlafsTer?
NM_013976.5:c.899_903del	NP_039663.1:p.Gly300AlafsTer?