Canonical Allele Identifier: CA2618946358
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675445-G-GAGCCATAGCTGCCACCTCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675445_52675446insAGCCATAGCTGCCACCTCCA , CM000674.2:g.52675445_52675446insAGCCATAGCTGCCACCTCCA GRCh38
NC_000012.11:g.53069229_53069230insAGCCATAGCTGCCACCTCCA , CM000674.1:g.53069229_53069230insAGCCATAGCTGCCACCTCCA GRCh37
NC_000012.10:g.51355496_51355497insAGCCATAGCTGCCACCTCCA NCBI36
NG_008364.1:g.9962_9963insTGGAGGTGGCAGCTATGGCT
NG_008364.2:g.9962_9963insTGGAGGTGGCAGCTATGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1682_1683insTGGAGGTGGCAGCTATGGCT MANE Select ENSP00000252244.3:p.Gly569GlufsTer?
NM_006121.3:c.1682_1683insTGGAGGTGGCAGCTATGGCT NP_006112.3:p.Gly569GlufsTer?
NM_006121.4:c.1682_1683insTGGAGGTGGCAGCTATGGCT MANE Select NP_006112.3:p.Gly569GlufsTer?
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