Canonical Allele Identifier: CA7828304

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 679722
• ClinVar RCV Id: RCV000839417 ; RCV002268337
• dbSNP Id: rs3211971
• ExAC: 16:2096093 T / TG
• gnomAD v2: 16-2096093-T-TG
• gnomAD v3: 16-2046092-T-TG
• gnomAD v4: 16-2046092-T-TG
• MyVariant Identifiers: chr16:g.2096093_2096094insG (hg19) ; chr16:g.2046092_2046093insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046098dup , CM000678.2:g.2046098dup	GRCh38
NC_000016.9:g.2096099dup , CM000678.1:g.2096099dup	GRCh37
NC_000016.8:g.2036100dup	NCBI36
NG_005895.1:g.1793dup , LRG_487:g.1793dup
NG_008412.1:g.6774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.63+35dup	ENSP00000498290.1:n.63+35dup
ENST00000651570.2:c.354+35dup MANE Select	ENSP00000498421.1:n.354+35dup
ENST00000651583.1:c.309+35dup	ENSP00000498821.1:n.309+35dup
ENST00000219066.5:c.378+35dup	ENSP00000219066.1:n.378+35dup
ENST00000561841.1:c.274+35dup
ENST00000562120.1:n.87+35dup
ENST00000566380.5:c.317+35dup
ENST00000568513.5:c.173+187dup
NM_002528.5:c.378+35dup	NP_002519.1:n.378+35dup
XM_011522505.1:c.378+35dup	XP_011520807.1:n.378+35dup
NM_001318193.1:c.378+35dup	NP_001305122.1:n.378+35dup
NM_001318194.1:c.24+187dup	NP_001305123.1:n.24+187dup
NM_002528.6:c.378+35dup	NP_002519.1:n.378+35dup
XM_017023253.1:c.378+35dup	XP_016878742.1:n.378+35dup
NM_001318193.2:c.354+35dup	NP_001305122.2:n.354+35dup
NM_002528.7:c.354+35dup MANE Select	NP_002519.2:n.354+35dup
NM_001318194.2:c.24+187dup	NP_001305123.1:n.24+187dup