Canonical Allele Identifier: CA2201986579

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046145_2046146delinsAG , CM000678.2:g.2046145_2046146delinsAG	GRCh38
NC_000016.9:g.2096146_2096147delinsAG , CM000678.1:g.2096146_2096147delinsAG	GRCh37
NC_000016.8:g.2036147_2036148delinsAG	NCBI36
NG_005895.1:g.1840_1841delinsAG , LRG_487:g.1840_1841delinsAG
NG_008412.1:g.6721_6722delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.45_46delinsCT	ENSP00000498290.1:p.Asp15=
ENST00000651570.2:c.336_337delinsCT MANE Select	ENSP00000498421.1:p.Asp112=
ENST00000651583.1:c.291_292delinsCT	ENSP00000498821.1:p.Asp97=
ENST00000219066.5:c.360_361delinsCT	ENSP00000219066.1:p.Asp120=
ENST00000561841.1:c.256_257delinsCT
ENST00000562120.1:n.69_70delinsCT
ENST00000566380.5:c.299_300delinsCT
ENST00000568513.5:c.173+134_173+135delinsCT
NM_002528.5:c.360_361delinsCT	NP_002519.1:p.Asp120=
XM_011522505.1:c.360_361delinsCT	XP_011520807.1:p.Asp120=
NM_001318193.1:c.360_361delinsCT	NP_001305122.1:p.Asp120=
NM_001318194.1:c.24+134_24+135delinsCT	NP_001305123.1:n.24+134_24+135delinsCT
NM_002528.6:c.360_361delinsCT	NP_002519.1:p.Asp120=
XM_017023253.1:c.360_361delinsCT	XP_016878742.1:p.Asp120=
NM_001318193.2:c.336_337delinsCT	NP_001305122.2:p.Asp112=
NM_002528.7:c.336_337delinsCT MANE Select	NP_002519.2:p.Asp112=
NM_001318194.2:c.24+134_24+135delinsCT	NP_001305123.1:n.24+134_24+135delinsCT