Canonical Allele Identifier: CA2201986647

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046188_2046189delinsCT , CM000678.2:g.2046188_2046189delinsCT	GRCh38
NC_000016.9:g.2096189_2096190delinsCT , CM000678.1:g.2096189_2096190delinsCT	GRCh37
NC_000016.8:g.2036190_2036191delinsCT	NCBI36
NG_005895.1:g.1883_1884delinsCT , LRG_487:g.1883_1884delinsCT
NG_008412.1:g.6678_6679delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.2_3delinsAG	ENSP00000498290.1:p.Lys1=
ENST00000651570.2:c.293_294delinsAG MANE Select	ENSP00000498421.1:p.Lys98=
ENST00000651583.1:c.248_249delinsAG	ENSP00000498821.1:p.Lys83=
ENST00000219066.5:c.317_318delinsAG	ENSP00000219066.1:p.Lys106=
ENST00000561841.1:c.213_214delinsAG
ENST00000562120.1:n.26_27delinsAG
ENST00000566380.5:c.256_257delinsAG
ENST00000568513.5:c.173+91_173+92delinsAG
NM_002528.5:c.317_318delinsAG	NP_002519.1:p.Lys106=
XM_011522505.1:c.317_318delinsAG	XP_011520807.1:p.Lys106=
NM_001318193.1:c.317_318delinsAG	NP_001305122.1:p.Lys106=
NM_001318194.1:c.24+91_24+92delinsAG	NP_001305123.1:n.24+91_24+92delinsAG
NM_002528.6:c.317_318delinsAG	NP_002519.1:p.Lys106=
XM_017023253.1:c.317_318delinsAG	XP_016878742.1:p.Lys106=
NM_001318193.2:c.293_294delinsAG	NP_001305122.2:p.Lys98=
NM_002528.7:c.293_294delinsAG MANE Select	NP_002519.2:p.Lys98=
NM_001318194.2:c.24+91_24+92delinsAG	NP_001305123.1:n.24+91_24+92delinsAG