Canonical Allele Identifier: CA6582851
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs777132336
ExAC: 12:52913714 AGCCAGCTCC / A
gnomAD v2: 12-52913714-AGCCAGCTCC-A
gnomAD v3: 12-52519930-AGCCAGCTCC-A
gnomAD v4: 12-52519930-AGCCAGCTCC-A
MyVariant Identifiers: chr12:g.52913715_52913723del (hg19) chr12:g.52519931_52519939del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519935_52519943del , CM000674.2:g.52519935_52519943del GRCh38
NC_000012.11:g.52913719_52913727del , CM000674.1:g.52913719_52913727del GRCh37
NC_000012.10:g.51199986_51199994del NCBI36
NG_008297.1:g.5521_5529del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.358_366del MANE Select ENSP00000252242.4:p.Gly120_Gly122del
ENST00000252242.8:c.358_366del ENSP00000252242.4:p.Gly120_Gly122del
ENST00000546577.1:c.358_366del ENSP00000449651.1:p.Gly120_Gly122del
ENST00000549420.1:c.44-16_44-8del ENSP00000447209.1:n.44-16_44-8del
ENST00000551275.1:c.253_261del ENSP00000448041.1:p.Gly85_Gly87del
ENST00000552629.5:n.456_464del
NM_000424.3:c.358_366del NP_000415.2:p.Gly120_Gly122del
NM_000424.4:c.358_366del MANE Select NP_000415.2:p.Gly120_Gly122del
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