Canonical Allele Identifier: CA915946197

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 648777
• ClinVar RCV Id: RCV000803580 ; RCV002424861
• dbSNP Id: rs1596222995

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046235_2046236delinsAT , CM000678.2:g.2046235_2046236delinsAT	GRCh38
NC_000016.9:g.2096236_2096237delinsAT , CM000678.1:g.2096236_2096237delinsAT	GRCh37
NC_000016.8:g.2036237_2036238delinsAT	NCBI36
NG_005895.1:g.1930_1931delinsAT , LRG_487:g.1930_1931delinsAT
NG_008412.1:g.6631_6632delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.246_247delinsAT MANE Select	ENSP00000498421.1:p.Asp83Tyr
ENST00000651583.1:c.201_202delinsAT	ENSP00000498821.1:p.Asp68Tyr
ENST00000219066.5:c.270_271delinsAT	ENSP00000219066.1:p.Asp91Tyr
ENST00000561841.1:c.166_167delinsAT
ENST00000566380.5:c.209_210delinsAT
ENST00000568513.5:c.173+44_173+45delinsAT
NM_002528.5:c.270_271delinsAT	NP_002519.1:p.Asp91Tyr
XM_011522505.1:c.270_271delinsAT	XP_011520807.1:p.Asp91Tyr
NM_001318193.1:c.270_271delinsAT	NP_001305122.1:p.Asp91Tyr
NM_001318194.1:c.24+44_24+45delinsAT	NP_001305123.1:n.24+44_24+45delinsAT
NM_002528.6:c.270_271delinsAT	NP_002519.1:p.Asp91Tyr
XM_017023253.1:c.270_271delinsAT	XP_016878742.1:p.Asp91Tyr
NM_001318193.2:c.246_247delinsAT	NP_001305122.2:p.Asp83Tyr
NM_002528.7:c.246_247delinsAT MANE Select	NP_002519.2:p.Asp83Tyr
NM_001318194.2:c.24+44_24+45delinsAT	NP_001305123.1:n.24+44_24+45delinsAT