Canonical Allele Identifier: CA2573130971

Linked Data

ClinVar Variation Id: 1472973
ClinVar RCV Id: RCV001977319
dbSNP Id: rs2101019157

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115286573_115286574delinsCT , CM000663.2:g.115286573_115286574delinsCT GRCh38
NC_000001.10:g.115829194_115829195delinsCT , CM000663.1:g.115829194_115829195delinsCT GRCh37
NC_000001.9:g.115630717_115630718delinsCT NCBI36
NG_007944.1:g.56663_56664delinsAG , LRG_260:g.56663_56664delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000369512.3:c.222_223delinsAG (NGF) MANE Select ENSP00000358525.2:p.Arg75Gly
ENST00000675637.2:c.222_223delinsAG (NGF) ENSP00000502831.1:p.Arg75Gly
ENST00000676038.2:c.222_223delinsAG (NGF) ENSP00000502380.1:p.Arg75Gly
ENST00000679806.1:c.222_223delinsAG (NGF) ENSP00000506492.1:p.Arg75Gly
ENST00000680116.1:c.222_223delinsAG (NGF) ENSP00000505694.1:p.Arg75Gly
ENST00000680540.1:c.222_223delinsAG (NGF) ENSP00000506569.1:p.Arg75Gly
ENST00000680752.1:c.222_223delinsAG (NGF) ENSP00000505558.1:p.Arg75Gly
ENST00000681124.1:c.-250_-249delinsAG (NGF) ENSP00000506364.1:n.-250_-249delinsAG
ENST00000369512.2:c.222_223delinsAG (NGF) ENSP00000358525.2:p.Arg75Gly
NM_002506.2:c.222_223delinsAG , LRG_260t1:c.222_223delinsAG (NGF) NP_002497.2:p.Arg75Gly
XM_006710663.2:c.222_223delinsAG (NGF) XP_006710726.1:p.Arg75Gly
XM_006710665.2:c.222_223delinsAG (NGF) XP_006710728.1:p.Arg75Gly
XM_011541518.1:c.387_388delinsAG (NGF) XP_011539820.1:p.Arg130Gly
NR_157569.1:n.207+3333_207+3334delinsCT (NGF-AS1)
XM_006710663.3:c.222_223delinsAG (NGF) XP_006710726.1:p.Arg75Gly
XM_011541518.2:c.387_388delinsAG (NGF) XP_011539820.1:p.Arg130Gly
NM_002506.3:c.222_223delinsAG (NGF) MANE Select NP_002497.2:p.Arg75Gly