Canonical Allele Identifier: CA10624741

Gene: GDNF

Linked Data

• ClinVar Variation Id: 353517
• ClinVar RCV Id: RCV000362220 ; RCV001692017
• dbSNP Id: rs150577324
• gnomAD v2: 5-37815589-TTCC-T
• gnomAD v3: 5-37815487-TTCC-T
• gnomAD v4: 5-37815487-TTCC-T
• MyVariant Identifiers: chr5:g.37815593_37815595del (hg19) ; chr5:g.37815590_37815592del (hg19) ; chr5:g.37815491_37815493del (hg38) ; chr5:g.37815488_37815490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815520_37815522del , CM000667.2:g.37815520_37815522del	GRCh38
NC_000005.9:g.37815622_37815624del , CM000667.1:g.37815622_37815624del	GRCh37
NC_000005.8:g.37851379_37851381del	NCBI36
NG_011675.2:g.29191_29193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326524.7:c.*161_*163del MANE Select	ENSP00000317145.2:n.*161_*163del
ENST00000326524.6:c.*161_*163del	ENSP00000317145.2:n.*161_*163del
ENST00000344622.8:c.*161_*163del	ENSP00000339703.4:n.*161_*163del
ENST00000620847.1:c.*161_*163del	ENSP00000478722.1:n.*161_*163del
NM_000514.3:c.*161_*163del	NP_000505.1:n.*161_*163del
NM_001190468.1:c.*161_*163del	NP_001177397.1:n.*161_*163del
NM_001190469.1:c.*161_*163del	NP_001177398.1:n.*161_*163del
NM_001278098.1:c.*161_*163del	NP_001265027.1:n.*161_*163del
NM_199231.2:c.*161_*163del	NP_954701.1:n.*161_*163del
XM_011514028.1:c.*161_*163del	XP_011512330.1:n.*161_*163del
XM_011514029.1:c.*161_*163del	XP_011512331.1:n.*161_*163del
XM_011514030.1:c.*161_*163del	XP_011512332.1:n.*161_*163del
NM_000514.4:c.*161_*163del MANE Select	NP_000505.1:n.*161_*163del