Canonical Allele Identifier: CA8547979
Gene: KRT10 HGNC NCBI

Linked Data

dbSNP Id: rs1905200608
ExAC: 17:38975250 AGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG / A
gnomAD v2: 17-38975250-AGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG-A
gnomAD v3: 17-40818998-AGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG-A
gnomAD v4: 17-40818998-AGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG-A
MyVariant Identifiers: chr17:g.38975251_38975328del (hg19) chr17:g.40818999_40819076del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40819035_40819112del , CM000679.2:g.40819035_40819112del GRCh38
NC_000017.10:g.38975287_38975364del , CM000679.1:g.38975287_38975364del GRCh37
NC_000017.9:g.36228813_36228890del NCBI36
NG_008405.1:g.8536_8613del
NG_033147.1:g.4944_5021del

Transcript Alleles

HGVS Amino-acid change
ENST00000269576.6:c.1459_1536del MANE Select ENSP00000269576.5:p.His487_Gly512del
ENST00000635956.2:c.1459_1536del ENSP00000490524.2:p.His487_Gly512del
ENST00000269576.5:c.1459_1536del ENSP00000269576.5:p.His487_Gly512del
NM_000421.3:c.1459_1536del NP_000412.3:p.His487_Gly512del
XM_005257343.2:c.1459_1536del XP_005257400.1:p.His487_Gly512del
XM_005257343.3:c.1459_1536del XP_005257400.1:p.His487_Gly512del
NM_000421.4:c.1459_1536del NP_000412.3:p.His487_Gly512del
NM_000421.5:c.1459_1536del MANE Select NP_000412.4:p.His487_Gly512del
NM_001379366.1:c.1459_1536del NP_001366295.1:p.His487_Gly512del
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