Canonical Allele Identifier: CA2202016907

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046050_2046051delinsCA , CM000678.2:g.2046050_2046051delinsCA	GRCh38
NC_000016.9:g.2096051_2096052delinsCA , CM000678.1:g.2096051_2096052delinsCA	GRCh37
NC_000016.8:g.2036052_2036053delinsCA	NCBI36
NG_005895.1:g.1745_1746delinsCA , LRG_487:g.1745_1746delinsCA
NG_008412.1:g.6816_6817delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+77_63+78delinsTG	ENSP00000498290.1:n.63+77_63+78delinsTG
ENST00000651570.2:c.354+77_354+78delinsTG MANE Select	ENSP00000498421.1:n.354+77_354+78delinsTG
ENST00000651583.1:c.309+77_309+78delinsTG	ENSP00000498821.1:n.309+77_309+78delinsTG
ENST00000219066.5:c.378+77_378+78delinsTG	ENSP00000219066.1:n.378+77_378+78delinsTG
ENST00000561841.1:c.274+77_274+78delinsTG
ENST00000562120.1:n.87+77_87+78delinsTG
ENST00000566380.5:c.317+77_317+78delinsTG
ENST00000568513.5:c.173+229_173+230delinsTG
NM_002528.5:c.378+77_378+78delinsTG	NP_002519.1:n.378+77_378+78delinsTG
XM_011522505.1:c.378+77_378+78delinsTG	XP_011520807.1:n.378+77_378+78delinsTG
NM_001318193.1:c.378+77_378+78delinsTG	NP_001305122.1:n.378+77_378+78delinsTG
NM_001318194.1:c.24+229_24+230delinsTG	NP_001305123.1:n.24+229_24+230delinsTG
NM_002528.6:c.378+77_378+78delinsTG	NP_002519.1:n.378+77_378+78delinsTG
XM_017023253.1:c.378+77_378+78delinsTG	XP_016878742.1:n.378+77_378+78delinsTG
NM_001318193.2:c.354+77_354+78delinsTG	NP_001305122.2:n.354+77_354+78delinsTG
NM_002528.7:c.354+77_354+78delinsTG MANE Select	NP_002519.2:n.354+77_354+78delinsTG
NM_001318194.2:c.24+229_24+230delinsTG	NP_001305123.1:n.24+229_24+230delinsTG