Canonical Allele Identifier: CA658684223

Gene: GCDH

Linked Data

• ClinVar Variation Id: 495687
• ClinVar RCV Id: RCV000588698
• dbSNP Id: rs1555750535
• MyVariant Identifiers: chr19:g.13007016_13007022del (hg19) ; chr19:g.12896202_12896208del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896202_12896208del , CM000681.2:g.12896202_12896208del	GRCh38
NC_000019.9:g.13007016_13007022del , CM000681.1:g.13007016_13007022del	GRCh37
NC_000019.8:g.12868016_12868022del	NCBI36
NG_009292.1:g.10043_10049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.636-3_639del
ENST00000222214.9:c.636-3_639del
ENST00000421816.6:n.614-3_617del
ENST00000585420.5:n.1001-38_1001-32del
ENST00000590530.5:c.*76-3_*79del
ENST00000591043.1:n.672-3_675del
ENST00000591470.5:c.636-3_639del
NM_000159.3:c.636-3_639del
NM_013976.3:c.636-3_639del
NR_102316.1:n.799-3_802del
NR_102317.1:n.1052-38_1052-32del
XM_006722721.2:c.636-3_639del
XM_011527899.1:c.636-3_639del
XM_011527900.1:c.636-3_639del
XM_011527899.2:c.636-3_639del
XM_011527900.2:c.636-3_639del
XM_017026580.1:c.636-3_639del
NM_000159.4:c.636-3_639del
NM_013976.4:c.636-3_639del
NM_013976.5:c.636-3_639del