Canonical Allele Identifier: CA2201986774

Gene: NTHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046249_2046250delinsAC , CM000678.2:g.2046249_2046250delinsAC	GRCh38
NC_000016.9:g.2096250_2096251delinsAC , CM000678.1:g.2096250_2096251delinsAC	GRCh37
NC_000016.8:g.2036251_2036252delinsAC	NCBI36
NG_005895.1:g.1944_1945delinsAC , LRG_487:g.1944_1945delinsAC
NG_008412.1:g.6617_6618delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.232_233delinsGT MANE Select	ENSP00000498421.1:p.Val78=
ENST00000651583.1:c.187_188delinsGT	ENSP00000498821.1:p.Val63=
ENST00000219066.5:c.256_257delinsGT	ENSP00000219066.1:p.Val86=
ENST00000561841.1:c.152_153delinsGT
ENST00000566380.5:c.195_196delinsGT
ENST00000568513.5:c.173+30_173+31delinsGT
NM_002528.5:c.256_257delinsGT	NP_002519.1:p.Val86=
XM_011522505.1:c.256_257delinsGT	XP_011520807.1:p.Val86=
NM_001318193.1:c.256_257delinsGT	NP_001305122.1:p.Val86=
NM_001318194.1:c.24+30_24+31delinsGT	NP_001305123.1:n.24+30_24+31delinsGT
NM_002528.6:c.256_257delinsGT	NP_002519.1:p.Val86=
XM_017023253.1:c.256_257delinsGT	XP_016878742.1:p.Val86=
NM_001318193.2:c.232_233delinsGT	NP_001305122.2:p.Val78=
NM_002528.7:c.232_233delinsGT MANE Select	NP_002519.2:p.Val78=
NM_001318194.2:c.24+30_24+31delinsGT	NP_001305123.1:n.24+30_24+31delinsGT