Canonical Allele Identifier: CA2631109120

Gene: NTHL1

Linked Data

• dbSNP Id: rs2150947711
• gnomAD v4: 16-2046354-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046358del , CM000678.2:g.2046358del	GRCh38
NC_000016.9:g.2096359del , CM000678.1:g.2096359del	GRCh37
NC_000016.8:g.2036360del	NCBI36
NG_005895.1:g.2053del , LRG_487:g.2053del
NG_008412.1:g.6512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.127del MANE Select	ENSP00000498421.1:p.Ser43AlafsTer5
ENST00000651583.1:c.82del	ENSP00000498821.1:p.Ser28AlafsTer5
ENST00000219066.5:c.151del	ENSP00000219066.1:p.Ser51AlafsTer5
ENST00000561841.1:c.47del
ENST00000566380.5:c.90del
ENST00000568513.5:c.98del
NM_002528.5:c.151del	NP_002519.1:p.Ser51AlafsTer5
XM_011522505.1:c.151del	XP_011520807.1:p.Ser51AlafsTer5
NM_001318193.1:c.151del	NP_001305122.1:p.Ser51AlafsTer5
NM_001318194.1:c.-52del	NP_001305123.1:n.-52del
NM_002528.6:c.151del	NP_002519.1:p.Ser51AlafsTer5
XM_017023253.1:c.151del	XP_016878742.1:p.Ser51AlafsTer5
NM_001318193.2:c.127del	NP_001305122.2:p.Ser43AlafsTer5
NM_002528.7:c.127del MANE Select	NP_002519.2:p.Ser43AlafsTer5
NM_001318194.2:c.-52del	NP_001305123.1:n.-52del