Canonical Allele Identifier: CA2775081010
Gene: NME8 HGNC NCBI
EPDR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37888201_37888237dup , CM000669.2:g.37888201_37888237dup GRCh38
NC_000007.13:g.37927803_37927839dup , CM000669.1:g.37927803_37927839dup GRCh37
NC_000007.12:g.37894328_37894364dup NCBI36
NG_015893.1:g.44605_44641dup

Transcript Alleles

HGVS Amino-acid change
ENST00000199447.9:c.1248-76_1248-40dup (NME8) MANE Select ENSP00000199447.4:n.1248-76_1248-40dup
ENST00000199447.8:c.1248-76_1248-40dup (NME8) ENSP00000199447.4:n.1248-76_1248-40dup
ENST00000426106.1:c.*194-76_*194-40dup (NME8) ENSP00000408841.1:n.*194-76_*194-40dup
ENST00000440017.5:c.1248-76_1248-40dup (NME8) ENSP00000397063.1:n.1248-76_1248-40dup
ENST00000476620.1:c.-38+30856_-38+30892dup (EPDR1) ENSP00000425858.1:n.-38+30856_-38+30892dup
NM_016616.4:c.1248-76_1248-40dup (NME8) NP_057700.3:n.1248-76_1248-40dup
NM_016616.5:c.1248-76_1248-40dup (NME8) MANE Select NP_057700.3:n.1248-76_1248-40dup
Search 100 bp 5'
Search 100 bp 3'