Canonical Allele Identifier: CA2697549524

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 2699729
• ClinVar RCV Id: RCV003544757

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046132_2046141del , CM000678.2:g.2046132_2046141del	GRCh38
NC_000016.9:g.2096133_2096142del , CM000678.1:g.2096133_2096142del	GRCh37
NC_000016.8:g.2036134_2036143del	NCBI36
NG_005895.1:g.1827_1836del , LRG_487:g.1827_1836del
NG_008412.1:g.6726_6735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.50_59del	ENSP00000498290.1:p.Ser17LysfsTer12
ENST00000651570.2:c.341_350del MANE Select	ENSP00000498421.1:p.Ser114LysfsTer12
ENST00000651583.1:c.296_305del	ENSP00000498821.1:p.Ser99LysfsTer5
ENST00000219066.5:c.365_374del	ENSP00000219066.1:p.Ser122LysfsTer12
ENST00000561841.1:c.261_270del
ENST00000562120.1:n.74_83del
ENST00000566380.5:c.304_313del
ENST00000568513.5:c.173+139_173+148del
NM_002528.5:c.365_374del	NP_002519.1:p.Ser122LysfsTer12
XM_011522505.1:c.365_374del	XP_011520807.1:p.Ser122LysfsTer5
NM_001318193.1:c.365_374del	NP_001305122.1:p.Ser122LysfsTer5
NM_001318194.1:c.24+139_24+148del	NP_001305123.1:n.24+139_24+148del
NM_002528.6:c.365_374del	NP_002519.1:p.Ser122LysfsTer12
XM_017023253.1:c.365_374del	XP_016878742.1:p.Ser122LysfsTer12
NM_001318193.2:c.341_350del	NP_001305122.2:p.Ser114LysfsTer5
NM_002528.7:c.341_350del MANE Select	NP_002519.2:p.Ser114LysfsTer12
NM_001318194.2:c.24+139_24+148del	NP_001305123.1:n.24+139_24+148del