Canonical Allele Identifier: CA7828309
Gene: NTHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 660624
dbSNP Id: rs763525759

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2046138dup , CM000678.2:g.2046138dup GRCh38
NC_000016.9:g.2096139dup , CM000678.1:g.2096139dup GRCh37
NC_000016.8:g.2036140dup NCBI36
NG_005895.1:g.1833dup , LRG_487:g.1833dup
NG_008412.1:g.6735dup

Transcript Alleles

HGVS Amino-acid change
ENST00000651522.1:c.59dup ENSP00000498290.1:p.Val22GlyfsTer?
ENST00000651570.2:c.350dup MANE Select ENSP00000498421.1:p.Val119GlyfsTer?
ENST00000651583.1:c.305dup ENSP00000498821.1:p.Ser104GlufsTer?
ENST00000219066.5:c.374dup ENSP00000219066.1:p.Val127GlyfsTer?
ENST00000561841.1:c.270dup
ENST00000562120.1:n.83dup
ENST00000566380.5:c.313dup
ENST00000568513.5:c.173+148dup
NM_002528.5:c.374dup NP_002519.1:p.Val127GlyfsTer?
XM_011522505.1:c.374dup XP_011520807.1:p.Ser127GlufsTer?
NM_001318193.1:c.374dup NP_001305122.1:p.Ser127GlufsTer?
NM_001318194.1:c.24+148dup NP_001305123.1:n.24+148dup
NM_002528.6:c.374dup NP_002519.1:p.Val127GlyfsTer?
XM_017023253.1:c.374dup XP_016878742.1:p.Val127GlyfsTer?
NM_001318193.2:c.350dup NP_001305122.2:p.Ser119GlufsTer?
NM_002528.7:c.350dup MANE Select NP_002519.2:p.Val119GlyfsTer?
NM_001318194.2:c.24+148dup NP_001305123.1:n.24+148dup