Canonical Allele Identifier: CA983719159
Gene: KRT10 HGNC NCBI

Linked Data

dbSNP Id: rs1905173179
gnomAD v3: 17-40818861-GCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCC-G
gnomAD v4: 17-40818861-GCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGGAGCTGCCGCCCCCGTAGCCGCCGCCGCCGCCGCCGGAACTGCCACCACCGTAGCCGCCGCTGGAACTGCCGCCGTGGCCGCCGCTGGAGCTTCCGCCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40818867_40818998del , CM000679.2:g.40818867_40818998del GRCh38
NC_000017.10:g.38975119_38975250del , CM000679.1:g.38975119_38975250del GRCh37
NC_000017.9:g.36228645_36228776del NCBI36
NG_008405.1:g.8619_8750del
NG_033147.1:g.4776_4907del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269576.6:c.1542_1673del MANE Select ENSP00000269576.5:p.Gly515_Gly558del
ENST00000635956.2:c.1542_1673del ENSP00000490524.2:p.Gly515_Gly558del
ENST00000269576.5:c.1542_1673del ENSP00000269576.5:p.Gly515_Gly558del
NM_000421.3:c.1542_1673del NP_000412.3:p.Gly515_Gly558del
XM_005257343.2:c.1542_1673del XP_005257400.1:p.Gly515_Gly558del
XM_005257343.3:c.1542_1673del XP_005257400.1:p.Gly515_Gly558del
NM_000421.4:c.1542_1673del NP_000412.3:p.Gly515_Gly558del
NM_000421.5:c.1542_1673del MANE Select NP_000412.4:p.Gly515_Gly558del
NM_001379366.1:c.1542_1673del NP_001366295.1:p.Gly515_Gly558del
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