Canonical Allele Identifier: CA2201986582

Gene: NTHL1

Linked Data

• dbSNP Id: rs2084363555

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046146del , CM000678.2:g.2046146del	GRCh38
NC_000016.9:g.2096147del , CM000678.1:g.2096147del	GRCh37
NC_000016.8:g.2036148del	NCBI36
NG_005895.1:g.1841del , LRG_487:g.1841del
NG_008412.1:g.6721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.45del	ENSP00000498290.1:p.Ser16ProfsTer16
ENST00000651570.2:c.336del MANE Select	ENSP00000498421.1:p.Ser113ProfsTer16
ENST00000651583.1:c.291del	ENSP00000498821.1:p.Ser98ProfsTer9
ENST00000219066.5:c.360del	ENSP00000219066.1:p.Ser121ProfsTer16
ENST00000561841.1:c.256del
ENST00000562120.1:n.69del
ENST00000566380.5:c.299del
ENST00000568513.5:c.173+134del
NM_002528.5:c.360del	NP_002519.1:p.Ser121ProfsTer16
XM_011522505.1:c.360del	XP_011520807.1:p.Ser121ProfsTer9
NM_001318193.1:c.360del	NP_001305122.1:p.Ser121ProfsTer9
NM_001318194.1:c.24+134del	NP_001305123.1:n.24+134del
NM_002528.6:c.360del	NP_002519.1:p.Ser121ProfsTer16
XM_017023253.1:c.360del	XP_016878742.1:p.Ser121ProfsTer16
NM_001318193.2:c.336del	NP_001305122.2:p.Ser113ProfsTer9
NM_002528.7:c.336del MANE Select	NP_002519.2:p.Ser113ProfsTer16
NM_001318194.2:c.24+134del	NP_001305123.1:n.24+134del