Canonical Allele Identifier: CA6582847
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs769291559
ExAC: 12:52913693 GGCCACCGAAGCCACCTCCAAAGCCAGCTCC / G
gnomAD v2: 12-52913693-GGCCACCGAAGCCACCTCCAAAGCCAGCTCC-G
gnomAD v3: 12-52519909-GGCCACCGAAGCCACCTCCAAAGCCAGCTCC-G
gnomAD v4: 12-52519909-GGCCACCGAAGCCACCTCCAAAGCCAGCTCC-G
MyVariant Identifiers: chr12:g.52913694_52913723del (hg19) chr12:g.52519910_52519939del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519918_52519947del , CM000674.2:g.52519918_52519947del GRCh38
NC_000012.11:g.52913702_52913731del , CM000674.1:g.52913702_52913731del GRCh37
NC_000012.10:g.51199969_51199998del NCBI36
NG_008297.1:g.5521_5550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.358_387del MANE Select ENSP00000252242.4:p.Gly120_Gly129del
ENST00000252242.8:c.358_387del ENSP00000252242.4:p.Gly120_Gly129del
ENST00000546577.1:c.358_387del ENSP00000449651.1:p.Gly120_Gly129del
ENST00000549420.1:c.44-16_57del
ENST00000551275.1:c.253_282del ENSP00000448041.1:p.Gly85_Gly94del
ENST00000552629.5:n.456_485del
NM_000424.3:c.358_387del NP_000415.2:p.Gly120_Gly129del
NM_000424.4:c.358_387del MANE Select NP_000415.2:p.Gly120_Gly129del
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