Canonical Allele Identifier: CA645509155

Gene: GDNF

Linked Data

• ClinVar Variation Id: 274009
• ClinVar RCV Id: RCV000508620
• dbSNP Id: rs1554020079
• MyVariant Identifiers: chr5:g.37815759_37815764del (hg19) ; chr5:g.37815657_37815662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815660_37815665del , CM000667.2:g.37815660_37815665del	GRCh38
NC_000005.9:g.37815762_37815767del , CM000667.1:g.37815762_37815767del	GRCh37
NC_000005.8:g.37851519_37851524del	NCBI36
NG_011675.2:g.29019_29024del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.625_630del MANE Select	ENSP00000317145.2:p.Gly209_Cys210del
ENST00000326524.6:c.625_630del	ENSP00000317145.2:p.Gly209_Cys210del
ENST00000344622.8:c.547_552del	ENSP00000339703.4:p.Gly183_Cys184del
ENST00000381826.8:c.598_603del	ENSP00000371248.4:p.Gly200_Cys201del
ENST00000427982.5:c.676_681del	ENSP00000409007.1:p.Gly226_Cys227del
ENST00000515058.5:c.547_552del	ENSP00000425928.1:p.Gly183_Cys184del
ENST00000620847.1:c.469_474del	ENSP00000478722.1:p.Gly157_Cys158del
NM_000514.3:c.625_630del	NP_000505.1:p.Gly209_Cys210del
NM_001190468.1:c.676_681del	NP_001177397.1:p.Gly226_Cys227del
NM_001190469.1:c.598_603del	NP_001177398.1:p.Gly200_Cys201del
NM_001278098.1:c.469_474del	NP_001265027.1:p.Gly157_Cys158del
NM_199231.2:c.547_552del	NP_954701.1:p.Gly183_Cys184del
XM_011514028.1:c.625_630del	XP_011512330.1:p.Gly209_Cys210del
XM_011514029.1:c.625_630del	XP_011512331.1:p.Gly209_Cys210del
XM_011514030.1:c.469_474del	XP_011512332.1:p.Gly157_Cys158del
XM_011514030.3:c.469_474del	XP_011512332.1:p.Gly157_Cys158del
XM_017009337.2:c.547_552del	XP_016864826.1:p.Gly183_Cys184del
NM_000514.4:c.625_630del MANE Select	NP_000505.1:p.Gly209_Cys210del