Canonical Allele Identifier: CA8548019
Gene: KRT10 HGNC NCBI

Linked Data

dbSNP Id: rs1567707214
ExAC: 17:38975316 GGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTA / G
gnomAD v2: 17-38975316-GGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTA-G
gnomAD v3: 17-40819064-GGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTA-G
gnomAD v4: 17-40819064-GGCCGCCGCCGTGGCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCGCCGTA-G
MyVariant Identifiers: chr17:g.38975317_38975370del (hg19) chr17:g.40819065_40819118del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40819075_40819128del , CM000679.2:g.40819075_40819128del GRCh38
NC_000017.10:g.38975327_38975380del , CM000679.1:g.38975327_38975380del GRCh37
NC_000017.9:g.36228853_36228906del NCBI36
NG_008405.1:g.8494_8547del
NG_033147.1:g.4984_5037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269576.6:c.1417_1470del MANE Select ENSP00000269576.5:p.Tyr473_Gly490del
ENST00000635956.2:c.1417_1470del ENSP00000490524.2:p.Tyr473_Gly490del
ENST00000269576.5:c.1417_1470del ENSP00000269576.5:p.Tyr473_Gly490del
NM_000421.3:c.1417_1470del NP_000412.3:p.Tyr473_Gly490del
XM_005257343.2:c.1417_1470del XP_005257400.1:p.Tyr473_Gly490del
XM_005257343.3:c.1417_1470del XP_005257400.1:p.Tyr473_Gly490del
NM_000421.4:c.1417_1470del NP_000412.3:p.Tyr473_Gly490del
NM_000421.5:c.1417_1470del MANE Select NP_000412.4:p.Tyr473_Gly490del
NM_001379366.1:c.1417_1470del NP_001366295.1:p.Tyr473_Gly490del
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