Canonical Allele Identifier: CA16041968
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 370903
ClinVar RCV Id: RCV000412140
dbSNP Id: rs1057516855
MyVariant Identifiers: chr19:g.13004468_13004475del (hg19) chr19:g.12893654_12893661del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893654_12893661del , CM000681.2:g.12893654_12893661del GRCh38
NC_000019.9:g.13004468_13004475del , CM000681.1:g.13004468_13004475del GRCh37
NC_000019.8:g.12865468_12865475del NCBI36
NG_009292.1:g.7495_7502del

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.505+1_505+8del
ENST00000222214.9:c.505+1_505+8del
ENST00000421816.6:n.483+1_483+8del
ENST00000585420.5:n.870+1_870+8del
ENST00000587832.5:n.563_570del
ENST00000588905.5:c.469+1_469+8del
ENST00000589039.5:c.442+1_442+8del
ENST00000590530.5:c.560+1_560+8del
ENST00000590627.5:n.871_878del
ENST00000591043.1:n.541+1_541+8del
ENST00000591470.5:c.505+1_505+8del
NM_000159.3:c.505+1_505+8del
NM_013976.3:c.505+1_505+8del
NR_102316.1:n.668+1_668+8del
NR_102317.1:n.921+1_921+8del
XM_006722721.2:c.505+1_505+8del
XM_011527899.1:c.505+1_505+8del
XM_011527900.1:c.505+1_505+8del
XM_011527899.2:c.505+1_505+8del
XM_011527900.2:c.505+1_505+8del
XM_017026580.1:c.505+1_505+8del
NM_000159.4:c.505+1_505+8del
NM_013976.4:c.505+1_505+8del
NM_013976.5:c.505+1_505+8del
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