Canonical Allele Identifier: CA2580090629

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 2095841
• ClinVar RCV Id: RCV003012535

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046153_2046155del , CM000678.2:g.2046153_2046155del	GRCh38
NC_000016.9:g.2096154_2096156del , CM000678.1:g.2096154_2096156del	GRCh37
NC_000016.8:g.2036155_2036157del	NCBI36
NG_005895.1:g.1848_1850del , LRG_487:g.1848_1850del
NG_008412.1:g.6714_6716del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.38_40del	ENSP00000498290.1:p.Cys13del
ENST00000651570.2:c.329_331del MANE Select	ENSP00000498421.1:p.Cys110del
ENST00000651583.1:c.284_286del	ENSP00000498821.1:p.Cys95del
ENST00000219066.5:c.353_355del	ENSP00000219066.1:p.Cys118del
ENST00000561841.1:c.249_251del
ENST00000562120.1:n.62_64del
ENST00000566380.5:c.292_294del
ENST00000568513.5:c.173+127_173+129del
NM_002528.5:c.353_355del	NP_002519.1:p.Cys118del
XM_011522505.1:c.353_355del	XP_011520807.1:p.Cys118del
NM_001318193.1:c.353_355del	NP_001305122.1:p.Cys118del
NM_001318194.1:c.24+127_24+129del	NP_001305123.1:n.24+127_24+129del
NM_002528.6:c.353_355del	NP_002519.1:p.Cys118del
XM_017023253.1:c.353_355del	XP_016878742.1:p.Cys118del
NM_001318193.2:c.329_331del	NP_001305122.2:p.Cys110del
NM_002528.7:c.329_331del MANE Select	NP_002519.2:p.Cys110del
NM_001318194.2:c.24+127_24+129del	NP_001305123.1:n.24+127_24+129del