Canonical Allele Identifier: CA4222479

Gene: NME8 EPDR1

Linked Data

• dbSNP Id: rs749437252
• ExAC: 7:37927868 CT / C
• gnomAD v2: 7-37927868-CT-C
• MyVariant Identifiers: chr7:g.37927869del (hg19) ; chr7:g.37888267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37888271del , CM000669.2:g.37888271del	GRCh38
NC_000007.13:g.37927873del , CM000669.1:g.37927873del	GRCh37
NC_000007.12:g.37894398del	NCBI36
NG_015893.1:g.44675del

Transcript Alleles

HGVS	Amino-acid change
ENST00000199447.9:c.1248-6del (NME8) MANE Select	ENSP00000199447.4:n.1248-6del
ENST00000199447.8:c.1248-6del (NME8)	ENSP00000199447.4:n.1248-6del
ENST00000426106.1:c.*194-6del (NME8)	ENSP00000408841.1:n.*194-6del
ENST00000440017.5:c.1248-6del (NME8)	ENSP00000397063.1:n.1248-6del
ENST00000476620.1:c.-38+30926del (EPDR1)	ENSP00000425858.1:n.-38+30926del
NM_016616.4:c.1248-6del (NME8)	NP_057700.3:n.1248-6del
NM_016616.5:c.1248-6del (NME8) MANE Select	NP_057700.3:n.1248-6del