Canonical Allele Identifier: CA2573151821

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1692692
• ClinVar RCV Id: RCV002255966
• dbSNP Id: rs2150946263

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046240_2046241insA , CM000678.2:g.2046240_2046241insA	GRCh38
NC_000016.9:g.2096241_2096242insA , CM000678.1:g.2096241_2096242insA	GRCh37
NC_000016.8:g.2036242_2036243insA	NCBI36
NG_005895.1:g.1935_1936insA , LRG_487:g.1935_1936insA
NG_008412.1:g.6626_6627insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.241_242insT MANE Select	ENSP00000498421.1:p.Pro81LeufsTer28
ENST00000651583.1:c.196_197insT	ENSP00000498821.1:p.Pro66LeufsTer28
ENST00000219066.5:c.265_266insT	ENSP00000219066.1:p.Pro89LeufsTer28
ENST00000561841.1:c.161_162insT
ENST00000566380.5:c.204_205insT
ENST00000568513.5:c.173+39_173+40insT
NM_002528.5:c.265_266insT	NP_002519.1:p.Pro89LeufsTer28
XM_011522505.1:c.265_266insT	XP_011520807.1:p.Pro89LeufsTer28
NM_001318193.1:c.265_266insT	NP_001305122.1:p.Pro89LeufsTer28
NM_001318194.1:c.24+39_24+40insT	NP_001305123.1:n.24+39_24+40insT
NM_002528.6:c.265_266insT	NP_002519.1:p.Pro89LeufsTer28
XM_017023253.1:c.265_266insT	XP_016878742.1:p.Pro89LeufsTer28
NM_001318193.2:c.241_242insT	NP_001305122.2:p.Pro81LeufsTer28
NM_002528.7:c.241_242insT MANE Select	NP_002519.2:p.Pro81LeufsTer28
NM_001318194.2:c.24+39_24+40insT	NP_001305123.1:n.24+39_24+40insT