Canonical Allele Identifier: CA2575876709

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046228_2046230del , CM000678.2:g.2046228_2046230del	GRCh38
NC_000016.9:g.2096229_2096231del , CM000678.1:g.2096229_2096231del	GRCh37
NC_000016.8:g.2036230_2036232del	NCBI36
NG_005895.1:g.1923_1925del , LRG_487:g.1923_1925del
NG_008412.1:g.6640_6642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.255_257del MANE Select	ENSP00000498421.1:p.Gln86del
ENST00000651583.1:c.210_212del	ENSP00000498821.1:p.Gln71del
ENST00000219066.5:c.279_281del	ENSP00000219066.1:p.Gln94del
ENST00000561841.1:c.175_177del
ENST00000566380.5:c.218_220del
ENST00000568513.5:c.173+53_173+55del
NM_002528.5:c.279_281del	NP_002519.1:p.Gln94del
XM_011522505.1:c.279_281del	XP_011520807.1:p.Gln94del
NM_001318193.1:c.279_281del	NP_001305122.1:p.Gln94del
NM_001318194.1:c.24+53_24+55del	NP_001305123.1:n.24+53_24+55del
NM_002528.6:c.279_281del	NP_002519.1:p.Gln94del
XM_017023253.1:c.279_281del	XP_016878742.1:p.Gln94del
NM_001318193.2:c.255_257del	NP_001305122.2:p.Gln86del
NM_002528.7:c.255_257del MANE Select	NP_002519.2:p.Gln86del
NM_001318194.2:c.24+53_24+55del	NP_001305123.1:n.24+53_24+55del