Canonical Allele Identifier: CA2201986738

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046233_2046242delinsGTCCTGGGGC , CM000678.2:g.2046233_2046242delinsGTCCTGGGGC	GRCh38
NC_000016.9:g.2096234_2096243delinsGTCCTGGGGC , CM000678.1:g.2096234_2096243delinsGTCCTGGGGC	GRCh37
NC_000016.8:g.2036235_2036244delinsGTCCTGGGGC	NCBI36
NG_005895.1:g.1928_1937delinsGTCCTGGGGC , LRG_487:g.1928_1937delinsGTCCTGGGGC
NG_008412.1:g.6625_6634delinsGCCCCAGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.240_249delinsGCCCCAGGAC MANE Select	ENSP00000498421.1:p.Glu80=
ENST00000651583.1:c.195_204delinsGCCCCAGGAC	ENSP00000498821.1:p.Glu65=
ENST00000219066.5:c.264_273delinsGCCCCAGGAC	ENSP00000219066.1:p.Glu88=
ENST00000561841.1:c.160_169delinsGCCCCAGGAC
ENST00000566380.5:c.203_212delinsGCCCCAGGAC
ENST00000568513.5:c.173+38_173+47delinsGCCCCAGGAC
NM_002528.5:c.264_273delinsGCCCCAGGAC	NP_002519.1:p.Glu88=
XM_011522505.1:c.264_273delinsGCCCCAGGAC	XP_011520807.1:p.Glu88=
NM_001318193.1:c.264_273delinsGCCCCAGGAC	NP_001305122.1:p.Glu88=
NM_001318194.1:c.24+38_24+47delinsGCCCCAGGAC	NP_001305123.1:n.24+38_24+47delinsGCCCCAGGAC
NM_002528.6:c.264_273delinsGCCCCAGGAC	NP_002519.1:p.Glu88=
XM_017023253.1:c.264_273delinsGCCCCAGGAC	XP_016878742.1:p.Glu88=
NM_001318193.2:c.240_249delinsGCCCCAGGAC	NP_001305122.2:p.Glu80=
NM_002528.7:c.240_249delinsGCCCCAGGAC MANE Select	NP_002519.2:p.Glu80=
NM_001318194.2:c.24+38_24+47delinsGCCCCAGGAC	NP_001305123.1:n.24+38_24+47delinsGCCCCAGGAC