Canonical Allele Identifier: CA573961268
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

dbSNP Id: rs1422041768
gnomAD v2: 7-37927919-CAG-C
gnomAD v3: 7-37888317-CAG-C
gnomAD v4: 7-37888317-CAG-C
MyVariant Identifiers: chr7:g.37927920_37927921del (hg19) chr7:g.37888318_37888319del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888318_37888319del , CM000669.2:g.37888318_37888319del GRCh38
NC_000007.13:g.37927920_37927921del , CM000669.1:g.37927920_37927921del GRCh37
NC_000007.12:g.37894445_37894446del NCBI36
NG_015893.1:g.44722_44723del

Transcript Alleles

HGVS Amino-acid Change
ENST00000199447.9:c.1289_1290del (NME8) MANE Select ENSP00000199447.4:p.Gln430LeufsTer11
ENST00000199447.8:c.1289_1290del (NME8) ENSP00000199447.4:p.Gln430LeufsTer11
ENST00000426106.1:c.*235_*236del (NME8) ENSP00000408841.1:n.*235_*236del
ENST00000440017.5:c.1289_1290del (NME8) ENSP00000397063.1:p.Gln430LeufsTer11
ENST00000476620.1:c.-38+30973_-38+30974del (EPDR1) ENSP00000425858.1:n.-38+30973_-38+30974del
NM_016616.4:c.1289_1290del (NME8) NP_057700.3:p.Gln430LeufsTer11
NM_016616.5:c.1289_1290del (NME8) MANE Select NP_057700.3:p.Gln430LeufsTer11
Search 100 bp 5'
Search 100 bp 3'