Canonical Allele Identifier: CA2631108103

Gene: NTHL1

Linked Data

• gnomAD v4: 16-2045985-GGCGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2045988_2045992del , CM000678.2:g.2045988_2045992del	GRCh38
NC_000016.9:g.2095989_2095993del , CM000678.1:g.2095989_2095993del	GRCh37
NC_000016.8:g.2035990_2035994del	NCBI36
NG_005895.1:g.1683_1687del , LRG_487:g.1683_1687del
NG_008412.1:g.6877_6881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+138_63+142del	ENSP00000498290.1:n.63+138_63+142del
ENST00000651570.2:c.354+138_354+142del MANE Select	ENSP00000498421.1:n.354+138_354+142del
ENST00000651583.1:c.309+138_309+142del	ENSP00000498821.1:n.309+138_309+142del
ENST00000219066.5:c.378+138_378+142del	ENSP00000219066.1:n.378+138_378+142del
ENST00000561841.1:c.274+138_274+142del
ENST00000562120.1:n.87+138_87+142del
ENST00000566380.5:c.317+138_317+142del
ENST00000568513.5:c.173+290_173+294del
NM_002528.5:c.378+138_378+142del	NP_002519.1:n.378+138_378+142del
XM_011522505.1:c.378+138_378+142del	XP_011520807.1:n.378+138_378+142del
NM_001318193.1:c.378+138_378+142del	NP_001305122.1:n.378+138_378+142del
NM_001318194.1:c.24+290_24+294del	NP_001305123.1:n.24+290_24+294del
NM_002528.6:c.378+138_378+142del	NP_002519.1:n.378+138_378+142del
XM_017023253.1:c.378+138_378+142del	XP_016878742.1:n.378+138_378+142del
NM_001318193.2:c.354+138_354+142del	NP_001305122.2:n.354+138_354+142del
NM_002528.7:c.354+138_354+142del MANE Select	NP_002519.2:n.354+138_354+142del
NM_001318194.2:c.24+290_24+294del	NP_001305123.1:n.24+290_24+294del