Canonical Allele Identifier: CA916081753

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 841583
• ClinVar RCV Id: RCV001043838 ; RCV004031332
• dbSNP Id: rs2084368947
• gnomAD v4: 16-2046191-TTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046194_2046196del , CM000678.2:g.2046194_2046196del	GRCh38
NC_000016.9:g.2096195_2096197del , CM000678.1:g.2096195_2096197del	GRCh37
NC_000016.8:g.2036196_2036198del	NCBI36
NG_005895.1:g.1889_1891del , LRG_487:g.1889_1891del
NG_008412.1:g.6673_6675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.288_290del MANE Select	ENSP00000498421.1:p.Asn96del
ENST00000651583.1:c.243_245del	ENSP00000498821.1:p.Asn81del
ENST00000219066.5:c.312_314del	ENSP00000219066.1:p.Asn104del
ENST00000561841.1:c.208_210del
ENST00000562120.1:n.21_23del
ENST00000566380.5:c.251_253del
ENST00000568513.5:c.173+86_173+88del
NM_002528.5:c.312_314del	NP_002519.1:p.Asn104del
XM_011522505.1:c.312_314del	XP_011520807.1:p.Asn104del
NM_001318193.1:c.312_314del	NP_001305122.1:p.Asn104del
NM_001318194.1:c.24+86_24+88del	NP_001305123.1:n.24+86_24+88del
NM_002528.6:c.312_314del	NP_002519.1:p.Asn104del
XM_017023253.1:c.312_314del	XP_016878742.1:p.Asn104del
NM_001318193.2:c.288_290del	NP_001305122.2:p.Asn96del
NM_002528.7:c.288_290del MANE Select	NP_002519.2:p.Asn96del
NM_001318194.2:c.24+86_24+88del	NP_001305123.1:n.24+86_24+88del