Canonical Allele Identifier: CA718909211

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 821502
• ClinVar RCV Id: RCV001015982 ; RCV002551789 ; RCV003336244
• dbSNP Id: rs1314290585
• gnomAD v4: 16-2046249-AC-A
• MyVariant Identifiers: chr16:g.2096251del (hg19) ; chr16:g.2046250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046250del , CM000678.2:g.2046250del	GRCh38
NC_000016.9:g.2096251del , CM000678.1:g.2096251del	GRCh37
NC_000016.8:g.2036252del	NCBI36
NG_005895.1:g.1945del , LRG_487:g.1945del
NG_008412.1:g.6617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.232del MANE Select	ENSP00000498421.1:p.Val78SerfsTer17
ENST00000651583.1:c.187del	ENSP00000498821.1:p.Val63SerfsTer17
ENST00000219066.5:c.256del	ENSP00000219066.1:p.Val86SerfsTer17
ENST00000561841.1:c.152del
ENST00000566380.5:c.195del
ENST00000568513.5:c.173+30del
NM_002528.5:c.256del	NP_002519.1:p.Val86SerfsTer17
XM_011522505.1:c.256del	XP_011520807.1:p.Val86SerfsTer17
NM_001318193.1:c.256del	NP_001305122.1:p.Val86SerfsTer17
NM_001318194.1:c.24+30del	NP_001305123.1:n.24+30del
NM_002528.6:c.256del	NP_002519.1:p.Val86SerfsTer17
XM_017023253.1:c.256del	XP_016878742.1:p.Val86SerfsTer17
NM_001318193.2:c.232del	NP_001305122.2:p.Val78SerfsTer17
NM_002528.7:c.232del MANE Select	NP_002519.2:p.Val78SerfsTer17
NM_001318194.2:c.24+30del	NP_001305123.1:n.24+30del