Canonical Allele Identifier: CA216611
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 14593
ClinVar RCV Id: RCV000015697 RCV000056514
dbSNP Id: rs57674130
MyVariant Identifiers: chr17:g.39780467_39780481del (hg19) chr17:g.41624215_41624229del (hg38)
PubMed: PMID:3954955 PMID:11348474
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624218_41624232del , CM000679.2:g.41624218_41624232del GRCh38
NC_000017.10:g.39780470_39780484del , CM000679.1:g.39780470_39780484del GRCh37
NC_000017.9:g.37033996_37034010del NCBI36
NG_008625.1:g.5402_5416del
NG_009090.2:g.167484_167498del , LRG_401:g.167484_167498del

Transcript Alleles

HGVS Amino-acid change
ENST00000311208.13:c.281_295del MANE Select ENSP00000308452.8:p.Arg94_Tyr98del
ENST00000311208.12:c.281_295del ENSP00000308452.8:p.Arg94_Tyr98del
ENST00000463128.5:c.-312-23_-312-9del ENSP00000468672.1:n.-312-23_-312-9del
ENST00000491673.1:n.347_361del
ENST00000493253.5:n.68_82del
ENST00000540235.5:c.71+5_71+19del ENSP00000441751.2:n.71+5_71+19del
ENST00000577817.3:c.236_250del ENSP00000467418.1:p.Arg79_Tyr83del
NM_000422.2:c.281_295del NP_000413.1:p.Arg94_Tyr98del
NM_000422.3:c.281_295del MANE Select NP_000413.1:p.Arg94_Tyr98del
Search 100 bp 5'
Search 100 bp 3'