Canonical Allele Identifier: CA2631108437

Gene: NTHL1

Linked Data

• dbSNP Id: rs2150944516
• gnomAD v4: 16-2046104-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046107del , CM000678.2:g.2046107del	GRCh38
NC_000016.9:g.2096108del , CM000678.1:g.2096108del	GRCh37
NC_000016.8:g.2036109del	NCBI36
NG_005895.1:g.1802del , LRG_487:g.1802del
NG_008412.1:g.6762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+23del	ENSP00000498290.1:n.63+23del
ENST00000651570.2:c.354+23del MANE Select	ENSP00000498421.1:n.354+23del
ENST00000651583.1:c.309+23del	ENSP00000498821.1:n.309+23del
ENST00000219066.5:c.378+23del	ENSP00000219066.1:n.378+23del
ENST00000561841.1:c.274+23del
ENST00000562120.1:n.87+23del
ENST00000566380.5:c.317+23del
ENST00000568513.5:c.173+175del
NM_002528.5:c.378+23del	NP_002519.1:n.378+23del
XM_011522505.1:c.378+23del	XP_011520807.1:n.378+23del
NM_001318193.1:c.378+23del	NP_001305122.1:n.378+23del
NM_001318194.1:c.24+175del	NP_001305123.1:n.24+175del
NM_002528.6:c.378+23del	NP_002519.1:n.378+23del
XM_017023253.1:c.378+23del	XP_016878742.1:n.378+23del
NM_001318193.2:c.354+23del	NP_001305122.2:n.354+23del
NM_002528.7:c.354+23del MANE Select	NP_002519.2:n.354+23del
NM_001318194.2:c.24+175del	NP_001305123.1:n.24+175del