Canonical Allele Identifier: CA915951044
Gene: NYX HGNC NCBI

Linked Data

ClinVar Variation Id: 812361
ClinVar RCV Id: RCV001003102
dbSNP Id: rs1602181043

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41474522_41474523del , CM000685.2:g.41474522_41474523del GRCh38
NC_000023.10:g.41333775_41333776del , CM000685.1:g.41333775_41333776del GRCh37
NC_000023.9:g.41218719_41218720del NCBI36
NG_009112.1:g.32063_32064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342595.3:c.1054_1055del ENSP00000340328.3:p.Val352HisfsTer?
ENST00000378220.3:c.1054_1055del MANE Select ENSP00000367465.2:p.Val352HisfsTer?
ENST00000378220.2:c.1069_1070del ENSP00000367465.1:p.Val357HisfsTer?
ENST00000342595.2:c.1069_1070del ENSP00000340328.2:p.Val357HisfsTer?
ENST00000378220.1:c.1069_1070del ENSP00000367465.1:p.Val357HisfsTer?
NM_022567.2:c.1069_1070del NP_072089.1:p.Val357HisfsTer?
XM_005272632.2:c.1069_1070del XP_005272689.1:p.Val357HisfsTer?
XM_017029709.1:c.1069_1070del XP_016885198.1:p.Val357HisfsTer?
NM_001378477.3:c.1054_1055del MANE Select NP_001365406.2:p.Val352HisfsTer?
NM_022567.3:c.1054_1055del NP_072089.2:p.Val352HisfsTer?