Canonical Allele Identifier: CA2573151822

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1692691
• ClinVar RCV Id: RCV002255965
• dbSNP Id: rs2150946310

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046243del , CM000678.2:g.2046243del	GRCh38
NC_000016.9:g.2096244del , CM000678.1:g.2096244del	GRCh37
NC_000016.8:g.2036245del	NCBI36
NG_005895.1:g.1938del , LRG_487:g.1938del
NG_008412.1:g.6624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.239del MANE Select	ENSP00000498421.1:p.Glu80GlyfsTer15
ENST00000651583.1:c.194del	ENSP00000498821.1:p.Glu65GlyfsTer15
ENST00000219066.5:c.263del	ENSP00000219066.1:p.Glu88GlyfsTer15
ENST00000561841.1:c.159del
ENST00000566380.5:c.202del
ENST00000568513.5:c.173+37del
NM_002528.5:c.263del	NP_002519.1:p.Glu88GlyfsTer15
XM_011522505.1:c.263del	XP_011520807.1:p.Glu88GlyfsTer15
NM_001318193.1:c.263del	NP_001305122.1:p.Glu88GlyfsTer15
NM_001318194.1:c.24+37del	NP_001305123.1:n.24+37del
NM_002528.6:c.263del	NP_002519.1:p.Glu88GlyfsTer15
XM_017023253.1:c.263del	XP_016878742.1:p.Glu88GlyfsTer15
NM_001318193.2:c.239del	NP_001305122.2:p.Glu80GlyfsTer15
NM_002528.7:c.239del MANE Select	NP_002519.2:p.Glu80GlyfsTer15
NM_001318194.2:c.24+37del	NP_001305123.1:n.24+37del