Canonical Allele Identifier: CA2805579162

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046136_2046138dup , CM000678.2:g.2046136_2046138dup	GRCh38
NC_000016.9:g.2096137_2096139dup , CM000678.1:g.2096137_2096139dup	GRCh37
NC_000016.8:g.2036138_2036140dup	NCBI36
NG_005895.1:g.1831_1833dup , LRG_487:g.1831_1833dup
NG_008412.1:g.6733_6735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.57_59dup	ENSP00000498290.1:p.Pro20_Lys21insPro
ENST00000651570.2:c.348_350dup MANE Select	ENSP00000498421.1:p.Pro117_Lys118insPro
ENST00000651583.1:c.303_305dup	ENSP00000498821.1:p.Pro102_Lys103insPro
ENST00000219066.5:c.372_374dup	ENSP00000219066.1:p.Pro125_Lys126insPro
ENST00000561841.1:c.268_270dup
ENST00000562120.1:n.81_83dup
ENST00000566380.5:c.311_313dup
ENST00000568513.5:c.173+146_173+148dup
NM_002528.5:c.372_374dup	NP_002519.1:p.Pro125_Lys126insPro
XM_011522505.1:c.372_374dup	XP_011520807.1:p.Pro125_Lys126insPro
NM_001318193.1:c.372_374dup	NP_001305122.1:p.Pro125_Lys126insPro
NM_001318194.1:c.24+146_24+148dup	NP_001305123.1:n.24+146_24+148dup
NM_002528.6:c.372_374dup	NP_002519.1:p.Pro125_Lys126insPro
XM_017023253.1:c.372_374dup	XP_016878742.1:p.Pro125_Lys126insPro
NM_001318193.2:c.348_350dup	NP_001305122.2:p.Pro117_Lys118insPro
NM_002528.7:c.348_350dup MANE Select	NP_002519.2:p.Pro117_Lys118insPro
NM_001318194.2:c.24+146_24+148dup	NP_001305123.1:n.24+146_24+148dup