Canonical Allele Identifier: CA6586059
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs752462027
ExAC: 12:53069214 ATAGCTGCCACCTCCGGAGCCG / A
gnomAD v2: 12-53069214-ATAGCTGCCACCTCCGGAGCCG-A
gnomAD v4: 12-52675430-ATAGCTGCCACCTCCGGAGCCG-A
MyVariant Identifiers: chr12:g.53069215_53069235del (hg19) chr12:g.52675431_52675451del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675438_52675458del , CM000674.2:g.52675438_52675458del GRCh38
NC_000012.11:g.53069222_53069242del , CM000674.1:g.53069222_53069242del GRCh37
NC_000012.10:g.51355489_51355509del NCBI36
NG_008364.1:g.9957_9977del
NG_008364.2:g.9957_9977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1677_1697del MANE Select ENSP00000252244.3:p.Gly560_Tyr566del
NM_006121.3:c.1677_1697del NP_006112.3:p.Gly560_Tyr566del
NM_006121.4:c.1677_1697del MANE Select NP_006112.3:p.Gly560_Tyr566del
Search 100 bp 5'
Search 100 bp 3'