Canonical Allele Identifier: CA9234457
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 495688
ClinVar RCV Id: RCV000587156
dbSNP Id: rs775103982
ExAC: 19:13007013 CCCCAGGAT / C
gnomAD v2: 19-13007013-CCCCAGGAT-C
MyVariant Identifiers: chr19:g.13007015_13007022del (hg19) chr19:g.13007014_13007021del (hg19) chr19:g.12896201_12896208del (hg38) chr19:g.12896200_12896207del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896201_12896208del , CM000681.2:g.12896201_12896208del GRCh38
NC_000019.9:g.13007015_13007022del , CM000681.1:g.13007015_13007022del GRCh37
NC_000019.8:g.12868015_12868022del NCBI36
NG_009292.1:g.10042_10049del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.636-4_639del
ENST00000222214.9:c.636-4_639del
ENST00000421816.6:n.614-4_617del
ENST00000585420.5:n.1001-39_1001-32del
ENST00000590530.5:c.*76-4_*79del
ENST00000591043.1:n.672-4_675del
ENST00000591470.5:c.636-4_639del
NM_000159.3:c.636-4_639del
NM_013976.3:c.636-4_639del
NR_102316.1:n.799-4_802del
NR_102317.1:n.1052-39_1052-32del
XM_006722721.2:c.636-4_639del
XM_011527899.1:c.636-4_639del
XM_011527900.1:c.636-4_639del
XM_011527899.2:c.636-4_639del
XM_011527900.2:c.636-4_639del
XM_017026580.1:c.636-4_639del
NM_000159.4:c.636-4_639del
NM_013976.4:c.636-4_639del
NM_013976.5:c.636-4_639del
Search 100 bp 5'
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