Canonical Allele Identifier: CA1896602

Gene: KYNU

Linked Data

• ClinVar Variation Id: 1324639
• ClinVar RCV Id: RCV001782359 ; RCV003326157
• dbSNP Id: rs550079487
• ExAC: 2:143676263 A / AT
• gnomAD v2: 2-143676263-A-AT
• gnomAD v3: 2-142918694-A-AT
• gnomAD v4: 2-142918694-A-AT
• MyVariant Identifiers: chr2:g.143676263_143676264insT (hg19) ; chr2:g.142918694_142918695insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.142918695dup , CM000664.2:g.142918695dup	GRCh38
NC_000002.11:g.143676264dup , CM000664.1:g.143676264dup	GRCh37
NC_000002.10:g.143392734dup	NCBI36
NG_023254.1:g.46070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264170.9:c.256dup MANE Select	ENSP00000264170.4:p.Tyr86LeufsTer3
ENST00000264170.8:c.256dup	ENSP00000264170.4:p.Tyr86LeufsTer3
ENST00000375773.6:c.256dup	ENSP00000364928.2:p.Tyr86LeufsTer3
ENST00000409512.5:c.256dup	ENSP00000386731.1:p.Tyr86LeufsTer3
ENST00000410015.6:c.256dup	ENSP00000387296.1:p.Tyr86LeufsTer3
ENST00000424385.5:c.170-8964dup	ENSP00000401190.1:n.170-8964dup
ENST00000460143.1:n.17dup
ENST00000612147.4:c.17dup
ENST00000621320.4:c.229dup	ENSP00000484801.1:p.Tyr77LeufsTer3
NM_001032998.1:c.256dup	NP_001028170.1:p.Tyr86LeufsTer3
NM_001199241.1:c.256dup	NP_001186170.1:p.Tyr86LeufsTer3
NM_003937.2:c.256dup	NP_003928.1:p.Tyr86LeufsTer3
XM_011512101.1:c.256dup	XP_011510403.1:p.Tyr86LeufsTer3
XR_923058.1:n.348dup
XM_017005217.1:c.256dup	XP_016860706.1:p.Tyr86LeufsTer3
XM_024453208.1:c.256dup	XP_024308976.1:p.Tyr86LeufsTer3
NM_003937.3:c.256dup MANE Select	NP_003928.1:p.Tyr86LeufsTer3
NM_001032998.2:c.256dup	NP_001028170.1:p.Tyr86LeufsTer3
NM_001199241.2:c.256dup	NP_001186170.1:p.Tyr86LeufsTer3