Canonical Allele Identifier: CA2695197407

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 2673813
• ClinVar RCV Id: RCV003458309 ; RCV003575097

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046131dup , CM000678.2:g.2046131dup	GRCh38
NC_000016.9:g.2096132dup , CM000678.1:g.2096132dup	GRCh37
NC_000016.8:g.2036133dup	NCBI36
NG_005895.1:g.1826dup , LRG_487:g.1826dup
NG_008412.1:g.6738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.62dup	ENSP00000498290.1:p.Val22GlyfsTer?
ENST00000651570.2:c.353dup MANE Select	ENSP00000498421.1:p.Val119GlyfsTer?
ENST00000651583.1:c.308dup	ENSP00000498821.1:p.Ser104GlufsTer?
ENST00000219066.5:c.377dup	ENSP00000219066.1:p.Val127GlyfsTer?
ENST00000561841.1:c.273dup
ENST00000562120.1:n.86dup
ENST00000566380.5:c.316dup
ENST00000568513.5:c.173+151dup
NM_002528.5:c.377dup	NP_002519.1:p.Val127GlyfsTer?
XM_011522505.1:c.377dup	XP_011520807.1:p.Ser127GlufsTer?
NM_001318193.1:c.377dup	NP_001305122.1:p.Ser127GlufsTer?
NM_001318194.1:c.24+151dup	NP_001305123.1:n.24+151dup
NM_002528.6:c.377dup	NP_002519.1:p.Val127GlyfsTer?
XM_017023253.1:c.377dup	XP_016878742.1:p.Val127GlyfsTer?
NM_001318193.2:c.353dup	NP_001305122.2:p.Ser119GlufsTer?
NM_002528.7:c.353dup MANE Select	NP_002519.2:p.Val119GlyfsTer?
NM_001318194.2:c.24+151dup	NP_001305123.1:n.24+151dup