Canonical Allele Identifier: CA2573151823

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1692690
• ClinVar RCV Id: RCV002257312
• dbSNP Id: rs2150946400

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046248dup , CM000678.2:g.2046248dup	GRCh38
NC_000016.9:g.2096249dup , CM000678.1:g.2096249dup	GRCh37
NC_000016.8:g.2036250dup	NCBI36
NG_005895.1:g.1943dup , LRG_487:g.1943dup
NG_008412.1:g.6619dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.234dup MANE Select	ENSP00000498421.1:p.Trp79LeufsTer30
ENST00000651583.1:c.189dup	ENSP00000498821.1:p.Trp64LeufsTer30
ENST00000219066.5:c.258dup	ENSP00000219066.1:p.Trp87LeufsTer30
ENST00000561841.1:c.154dup
ENST00000566380.5:c.197dup
ENST00000568513.5:c.173+32dup
NM_002528.5:c.258dup	NP_002519.1:p.Trp87LeufsTer30
XM_011522505.1:c.258dup	XP_011520807.1:p.Trp87LeufsTer30
NM_001318193.1:c.258dup	NP_001305122.1:p.Trp87LeufsTer30
NM_001318194.1:c.24+32dup	NP_001305123.1:n.24+32dup
NM_002528.6:c.258dup	NP_002519.1:p.Trp87LeufsTer30
XM_017023253.1:c.258dup	XP_016878742.1:p.Trp87LeufsTer30
NM_001318193.2:c.234dup	NP_001305122.2:p.Trp79LeufsTer30
NM_002528.7:c.234dup MANE Select	NP_002519.2:p.Trp79LeufsTer30
NM_001318194.2:c.24+32dup	NP_001305123.1:n.24+32dup