Canonical Allele Identifier: CA276765609

Gene: NTHL1

Linked Data

• dbSNP Id: rs35816994

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046193del , CM000678.2:g.2046193del	GRCh38
NC_000016.9:g.2096194del , CM000678.1:g.2096194del	GRCh37
NC_000016.8:g.2036195del	NCBI36
NG_005895.1:g.1888del , LRG_487:g.1888del
NG_008412.1:g.6678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.293del MANE Select	ENSP00000498421.1:p.Lys98ArgfsTer?
ENST00000651583.1:c.248del	ENSP00000498821.1:p.Lys83ArgfsTer24
ENST00000219066.5:c.317del	ENSP00000219066.1:p.Lys106ArgfsTer?
ENST00000561841.1:c.213del
ENST00000562120.1:n.26del
ENST00000566380.5:c.256del
ENST00000568513.5:c.173+91del
NM_002528.5:c.317del	NP_002519.1:p.Lys106ArgfsTer?
XM_011522505.1:c.317del	XP_011520807.1:p.Lys106ArgfsTer24
NM_001318193.1:c.317del	NP_001305122.1:p.Lys106ArgfsTer24
NM_001318194.1:c.24+91del	NP_001305123.1:n.24+91del
NM_002528.6:c.317del	NP_002519.1:p.Lys106ArgfsTer?
XM_017023253.1:c.317del	XP_016878742.1:p.Lys106ArgfsTer?
NM_001318193.2:c.293del	NP_001305122.2:p.Lys98ArgfsTer24
NM_002528.7:c.293del MANE Select	NP_002519.2:p.Lys98ArgfsTer?
NM_001318194.2:c.24+91del	NP_001305123.1:n.24+91del