Canonical Allele Identifier: CA334815

Gene: GPD1L

Linked Data

• ClinVar Variation Id: 190765
• ClinVar RCV Id: RCV000170924
• dbSNP Id: rs786205800
• MyVariant Identifiers: chr3:g.32148211del (hg19) ; chr3:g.32106719del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32106719del , CM000665.2:g.32106719del	GRCh38
NC_000003.11:g.32148211del , CM000665.1:g.32148211del	GRCh37
NC_000003.10:g.32123215del	NCBI36
NG_023375.1:g.5209del , LRG_419:g.5209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282541.10:c.8del MANE Select	ENSP00000282541.6:p.Ala3GlyfsTer4
ENST00000282541.9:c.8del	ENSP00000282541.5:p.Ala3GlyfsTer4
ENST00000425459.5:c.8del	ENSP00000408770.1:p.Ala3GlyfsTer4
ENST00000428684.1:c.8del	ENSP00000392199.1:p.Ala3GlyfsTer4
ENST00000429432.5:c.-71+890del	ENSP00000393861.1:n.-71+890del
ENST00000431009.1:c.-169del	ENSP00000416518.1:n.-169del
NM_015141.3:c.8del , LRG_419t1:c.8del	NP_055956.1:p.Ala3GlyfsTer4
XM_005264983.2:c.8del	XP_005265040.1:p.Ala3GlyfsTer4
XM_006713068.2:c.8del	XP_006713131.1:p.Ala3GlyfsTer4
NM_015141.4:c.8del MANE Select	NP_055956.1:p.Ala3GlyfsTer4