Canonical Allele Identifier: CA8548031
Gene: KRT10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374060
ClinVar RCV Id: RCV001877635
dbSNP Id: rs753095095
ExAC: 17:38975329 GCCGCCGCCGGAGCTT / G
gnomAD v2: 17-38975329-GCCGCCGCCGGAGCTT-G
gnomAD v3: 17-40819077-GCCGCCGCCGGAGCTT-G
gnomAD v4: 17-40819077-GCCGCCGCCGGAGCTT-G
MyVariant Identifiers: chr17:g.38975330_38975344del (hg19) chr17:g.40819078_40819092del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40819102_40819116del , CM000679.2:g.40819102_40819116del GRCh38
NC_000017.10:g.38975354_38975368del , CM000679.1:g.38975354_38975368del GRCh37
NC_000017.9:g.36228880_36228894del NCBI36
NG_008405.1:g.8520_8534del
NG_033147.1:g.5011_5025del

Transcript Alleles

HGVS Amino-acid change
ENST00000269576.6:c.1443_1457del MANE Select ENSP00000269576.5:p.Ser482_Gly486del
ENST00000635956.2:c.1443_1457del ENSP00000490524.2:p.Ser482_Gly486del
ENST00000269576.5:c.1443_1457del ENSP00000269576.5:p.Ser482_Gly486del
NM_000421.3:c.1443_1457del NP_000412.3:p.Ser482_Gly486del
XM_005257343.2:c.1443_1457del XP_005257400.1:p.Ser482_Gly486del
XM_005257343.3:c.1443_1457del XP_005257400.1:p.Ser482_Gly486del
NM_000421.4:c.1443_1457del NP_000412.3:p.Ser482_Gly486del
NM_000421.5:c.1443_1457del MANE Select NP_000412.4:p.Ser482_Gly486del
NM_001379366.1:c.1443_1457del NP_001366295.1:p.Ser482_Gly486del
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