Canonical Allele Identifier: CA2746543
Gene: KNG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225401
ClinVar RCV Id: RCV000490309
dbSNP Id: rs559129841
ExAC: 3:186460047 CAGTT / C
gnomAD v2: 3-186460047-CAGTT-C
gnomAD v3: 3-186742258-CAGTT-C
gnomAD v4: 3-186742258-CAGTT-C
MyVariant Identifiers: chr3:g.186460051_186460054del (hg19) chr3:g.186460048_186460051del (hg19) chr3:g.186742262_186742265del (hg38) chr3:g.186742259_186742262del (hg38)
PubMed: PMID:17522339
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186742262_186742265del , CM000665.2:g.186742262_186742265del GRCh38
NC_000003.11:g.186460051_186460054del , CM000665.1:g.186460051_186460054del GRCh37
NC_000003.10:g.187942745_187942748del NCBI36
NG_016009.1:g.29954_29957del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287611.8:c.1203+663_1203+666del ENSP00000287611.2:n.1203+663_1203+666del
ENST00000644859.2:c.1866_1869del MANE Select ENSP00000493985.1:p.Ser623LysfsTer8
ENST00000265023.8:c.1866_1869del ENSP00000265023.4:p.Ser623LysfsTer8
ENST00000287611.6:c.1203+663_1203+666del ENSP00000287611.2:n.1203+663_1203+666del
ENST00000447445.1:c.1095+663_1095+666del ENSP00000396025.1:n.1095+663_1095+666del
NM_000893.3:c.1203+663_1203+666del NP_000884.1:n.1203+663_1203+666del
NM_001102416.2:c.1866_1869del NP_001095886.1:p.Ser623LysfsTer8
NM_001166451.1:c.1095+663_1095+666del NP_001159923.1:n.1095+663_1095+666del
NM_000893.4:c.1203+663_1203+666del NP_000884.1:n.1203+663_1203+666del
NM_001102416.3:c.1866_1869del MANE Select NP_001095886.1:p.Ser623LysfsTer8
NM_001166451.2:c.1095+663_1095+666del NP_001159923.1:n.1095+663_1095+666del
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