Canonical Allele Identifier: CA2202016955

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046131_2046132delinsTG , CM000678.2:g.2046131_2046132delinsTG	GRCh38
NC_000016.9:g.2096132_2096133delinsTG , CM000678.1:g.2096132_2096133delinsTG	GRCh37
NC_000016.8:g.2036133_2036134delinsTG	NCBI36
NG_005895.1:g.1826_1827delinsTG , LRG_487:g.1826_1827delinsTG
NG_008412.1:g.6735_6736delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.59_60delinsCA	ENSP00000498290.1:p.Pro20=
ENST00000651570.2:c.350_351delinsCA MANE Select	ENSP00000498421.1:p.Pro117=
ENST00000651583.1:c.305_306delinsCA	ENSP00000498821.1:p.Pro102=
ENST00000219066.5:c.374_375delinsCA	ENSP00000219066.1:p.Pro125=
ENST00000561841.1:c.270_271delinsCA
ENST00000562120.1:n.83_84delinsCA
ENST00000566380.5:c.313_314delinsCA
ENST00000568513.5:c.173+148_173+149delinsCA
NM_002528.5:c.374_375delinsCA	NP_002519.1:p.Pro125=
XM_011522505.1:c.374_375delinsCA	XP_011520807.1:p.Pro125=
NM_001318193.1:c.374_375delinsCA	NP_001305122.1:p.Pro125=
NM_001318194.1:c.24+148_24+149delinsCA	NP_001305123.1:n.24+148_24+149delinsCA
NM_002528.6:c.374_375delinsCA	NP_002519.1:p.Pro125=
XM_017023253.1:c.374_375delinsCA	XP_016878742.1:p.Pro125=
NM_001318193.2:c.350_351delinsCA	NP_001305122.2:p.Pro117=
NM_002528.7:c.350_351delinsCA MANE Select	NP_002519.2:p.Pro117=
NM_001318194.2:c.24+148_24+149delinsCA	NP_001305123.1:n.24+148_24+149delinsCA