Canonical Allele Identifier: CA2697549525

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 2704944
• ClinVar RCV Id: RCV003575192

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046150_2046151del , CM000678.2:g.2046150_2046151del	GRCh38
NC_000016.9:g.2096151_2096152del , CM000678.1:g.2096151_2096152del	GRCh37
NC_000016.8:g.2036152_2036153del	NCBI36
NG_005895.1:g.1845_1846del , LRG_487:g.1845_1846del
NG_008412.1:g.6717_6718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.41_42del	ENSP00000498290.1:p.Tyr14Ter
ENST00000651570.2:c.332_333del MANE Select	ENSP00000498421.1:p.Tyr111Ter
ENST00000651583.1:c.287_288del	ENSP00000498821.1:p.Tyr96Ter
ENST00000219066.5:c.356_357del	ENSP00000219066.1:p.Tyr119Ter
ENST00000561841.1:c.252_253del
ENST00000562120.1:n.65_66del
ENST00000566380.5:c.295_296del
ENST00000568513.5:c.173+130_173+131del
NM_002528.5:c.356_357del	NP_002519.1:p.Tyr119Ter
XM_011522505.1:c.356_357del	XP_011520807.1:p.Tyr119Ter
NM_001318193.1:c.356_357del	NP_001305122.1:p.Tyr119Ter
NM_001318194.1:c.24+130_24+131del	NP_001305123.1:n.24+130_24+131del
NM_002528.6:c.356_357del	NP_002519.1:p.Tyr119Ter
XM_017023253.1:c.356_357del	XP_016878742.1:p.Tyr119Ter
NM_001318193.2:c.332_333del	NP_001305122.2:p.Tyr111Ter
NM_002528.7:c.332_333del MANE Select	NP_002519.2:p.Tyr111Ter
NM_001318194.2:c.24+130_24+131del	NP_001305123.1:n.24+130_24+131del