Canonical Allele Identifier: CA1896990

Gene: KYNU

Linked Data

• ClinVar Variation Id: 403731
• ClinVar RCV Id: RCV000496114 ; RCV000505812 ; RCV000520521
• dbSNP Id: rs770642379
• ExAC: 2:143797998 TCTTTAAG / T
• gnomAD v2: 2-143797998-TCTTTAAG-T
• gnomAD v3: 2-143040429-TCTTTAAG-T
• gnomAD v4: 2-143040429-TCTTTAAG-T
• MyVariant Identifiers: chr2:g.143798000_143798006del (hg19) ; chr2:g.143797999_143798005del (hg19) ; chr2:g.143040431_143040437del (hg38) ; chr2:g.143040430_143040436del (hg38)
• PubMed: PMID:28792876

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.143040431_143040437del , CM000664.2:g.143040431_143040437del	GRCh38
NC_000002.11:g.143798000_143798006del , CM000664.1:g.143798000_143798006del	GRCh37
NC_000002.10:g.143514470_143514476del	NCBI36
NG_023254.1:g.167806_167812del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264170.9:c.1045_1051del MANE Select	ENSP00000264170.4:p.Phe349LysfsTer4
ENST00000264170.8:c.1045_1051del	ENSP00000264170.4:p.Phe349LysfsTer4
ENST00000409512.5:c.1045_1051del	ENSP00000386731.1:p.Phe349LysfsTer4
NM_001199241.1:c.1045_1051del	NP_001186170.1:p.Phe349LysfsTer4
NM_003937.2:c.1045_1051del	NP_003928.1:p.Phe349LysfsTer4
XM_011512101.1:c.1045_1051del	XP_011510403.1:p.Phe349LysfsTer4
XM_011512102.1:c.646_652del	XP_011510404.1:p.Phe216LysfsTer4
XM_011512103.1:c.646_652del	XP_011510405.1:p.Phe216LysfsTer4
XM_011512104.1:c.646_652del	XP_011510406.1:p.Phe216LysfsTer4
XM_011512105.1:c.646_652del	XP_011510407.1:p.Phe216LysfsTer4
XR_923058.1:n.1275_1281del
XM_011512102.2:c.646_652del	XP_011510404.1:p.Phe216LysfsTer4
XM_024453208.1:c.1045_1051del	XP_024308976.1:p.Phe349LysfsTer4
NM_003937.3:c.1045_1051del MANE Select	NP_003928.1:p.Phe349LysfsTer4
NM_001199241.2:c.1045_1051del	NP_001186170.1:p.Phe349LysfsTer4