Canonical Allele Identifier: CA2201986652

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046191_2046194delinsTTTG , CM000678.2:g.2046191_2046194delinsTTTG	GRCh38
NC_000016.9:g.2096192_2096195delinsTTTG , CM000678.1:g.2096192_2096195delinsTTTG	GRCh37
NC_000016.8:g.2036193_2036196delinsTTTG	NCBI36
NG_005895.1:g.1886_1889delinsTTTG , LRG_487:g.1886_1889delinsTTTG
NG_008412.1:g.6673_6676delinsCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.288_291delinsCAAA MANE Select	ENSP00000498421.1:p.Asn96=
ENST00000651583.1:c.243_246delinsCAAA	ENSP00000498821.1:p.Asn81=
ENST00000219066.5:c.312_315delinsCAAA	ENSP00000219066.1:p.Asn104=
ENST00000561841.1:c.208_211delinsCAAA
ENST00000562120.1:n.21_24delinsCAAA
ENST00000566380.5:c.251_254delinsCAAA
ENST00000568513.5:c.173+86_173+89delinsCAAA
NM_002528.5:c.312_315delinsCAAA	NP_002519.1:p.Asn104=
XM_011522505.1:c.312_315delinsCAAA	XP_011520807.1:p.Asn104=
NM_001318193.1:c.312_315delinsCAAA	NP_001305122.1:p.Asn104=
NM_001318194.1:c.24+86_24+89delinsCAAA	NP_001305123.1:n.24+86_24+89delinsCAAA
NM_002528.6:c.312_315delinsCAAA	NP_002519.1:p.Asn104=
XM_017023253.1:c.312_315delinsCAAA	XP_016878742.1:p.Asn104=
NM_001318193.2:c.288_291delinsCAAA	NP_001305122.2:p.Asn96=
NM_002528.7:c.288_291delinsCAAA MANE Select	NP_002519.2:p.Asn96=
NM_001318194.2:c.24+86_24+89delinsCAAA	NP_001305123.1:n.24+86_24+89delinsCAAA