Canonical Allele Identifier: CA150622

Gene: KPTN

Linked Data

• ClinVar Variation Id: 100680
• ClinVar RCV Id: RCV000087080 ; RCV000515002 ; RCV003415870 ; RCV003343637
• dbSNP Id: rs587777148
• ExAC: 19:47983175 G / GACCGACCACATCTGCAGA
• gnomAD v2: 19-47983175-G-GACCGACCACATCTGCAGA
• gnomAD v3: 19-47479918-G-GACCGACCACATCTGCAGA
• gnomAD v4: 19-47479918-G-GACCGACCACATCTGCAGA
• MyVariant Identifiers: chr19:g.47983176_47983193dup18 (hg19) ; chr19:g.47983175_47983176insACCGACCACATCTGCAGA (hg19) ; chr19:g.47479919_47479936dup18 (hg38) ; chr19:g.47479918_47479919insACCGACCACATCTGCAGA (hg38)
• PubMed: PMID:24239382

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47479922_47479939dup , CM000681.2:g.47479922_47479939dup	GRCh38
NC_000019.9:g.47983179_47983196dup , CM000681.1:g.47983179_47983196dup	GRCh37
NC_000019.8:g.52674991_52675008dup	NCBI36
NG_034097.1:g.9329_9346dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338134.8:c.714_731dup MANE Select	ENSP00000337850.2:p.Val244_Leu245insLeuGlnMetTrpSerVal
ENST00000338134.7:c.714_731dup	ENSP00000337850.2:p.Val244_Leu245insLeuGlnMetTrpSerVal
ENST00000594208.5:c.*348_*365dup	ENSP00000470364.1:n.*348_*365dup
ENST00000595554.1:c.546_563dup	ENSP00000469446.1:p.Val188_Leu189insLeuGlnMetTrpSerVal
ENST00000600271.5:c.-7_11dup	ENSP00000472291.1:p.Val4_Leu5insLeuGlnMetTrpSerVal
NM_001291296.1:c.546_563dup	NP_001278225.1:p.Val188_Leu189insLeuGlnMetTrpSerVal
NM_007059.3:c.714_731dup	NP_008990.2:p.Val244_Leu245insLeuGlnMetTrpSerVal
NR_111923.1:n.905_922dup
XM_011526398.1:c.900_917dup	XP_011524700.1:p.Val306_Leu307insLeuGlnMetTrpSerVal
XM_011526399.1:c.900_917dup	XP_011524701.1:p.Val306_Leu307insLeuGlnMetTrpSerVal
XM_011526400.1:c.900_917dup	XP_011524702.1:p.Val306_Leu307insLeuGlnMetTrpSerVal
XM_011526401.1:c.732_749dup	XP_011524703.1:p.Val250_Leu251insLeuGlnMetTrpSerVal
XM_017026226.1:c.966_983dup	XP_016881715.1:p.Val328_Leu329insLeuGlnMetTrpSerVal
XM_017026227.1:c.966_983dup	XP_016881716.1:p.Val328_Leu329insLeuGlnMetTrpSerVal
XM_017026228.1:c.966_983dup	XP_016881717.1:p.Val328_Leu329insLeuGlnMetTrpSerVal
XM_024451333.1:c.714_731dup	XP_024307101.1:p.Val244_Leu245insLeuGlnMetTrpSerVal
XR_001753597.1:n.1168_1185dup
NM_007059.4:c.714_731dup MANE Select	NP_008990.2:p.Val244_Leu245insLeuGlnMetTrpSerVal
NM_001291296.2:c.546_563dup	NP_001278225.1:p.Val188_Leu189insLeuGlnMetTrpSerVal
NR_111923.2:n.860_877dup