Canonical Allele Identifier: CA2631108136

Gene: NTHL1

Linked Data

• gnomAD v4: 16-2045999-GCACCGGGTGTCCATCCTCCCAAGGTGCTGTCTGCAGGGGAGGGTGCCAGCCAAAAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046008_2046064del , CM000678.2:g.2046008_2046064del	GRCh38
NC_000016.9:g.2096009_2096065del , CM000678.1:g.2096009_2096065del	GRCh37
NC_000016.8:g.2036010_2036066del	NCBI36
NG_005895.1:g.1703_1759del , LRG_487:g.1703_1759del
NG_008412.1:g.6811_6867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+72_63+128del	ENSP00000498290.1:n.63+72_63+128del
ENST00000651570.2:c.354+72_354+128del MANE Select	ENSP00000498421.1:n.354+72_354+128del
ENST00000651583.1:c.309+72_309+128del	ENSP00000498821.1:n.309+72_309+128del
ENST00000219066.5:c.378+72_378+128del	ENSP00000219066.1:n.378+72_378+128del
ENST00000561841.1:c.274+72_274+128del
ENST00000562120.1:n.87+72_87+128del
ENST00000566380.5:c.317+72_317+128del
ENST00000568513.5:c.173+224_173+280del
NM_002528.5:c.378+72_378+128del	NP_002519.1:n.378+72_378+128del
XM_011522505.1:c.378+72_378+128del	XP_011520807.1:n.378+72_378+128del
NM_001318193.1:c.378+72_378+128del	NP_001305122.1:n.378+72_378+128del
NM_001318194.1:c.24+224_24+280del	NP_001305123.1:n.24+224_24+280del
NM_002528.6:c.378+72_378+128del	NP_002519.1:n.378+72_378+128del
XM_017023253.1:c.378+72_378+128del	XP_016878742.1:n.378+72_378+128del
NM_001318193.2:c.354+72_354+128del	NP_001305122.2:n.354+72_354+128del
NM_002528.7:c.354+72_354+128del MANE Select	NP_002519.2:n.354+72_354+128del
NM_001318194.2:c.24+224_24+280del	NP_001305123.1:n.24+224_24+280del