Canonical Allele Identifier: CA605241236
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1172668391
gnomAD v2: 12-53069198-CGCCACCTCCAGAGCCATAGCT-C
gnomAD v3: 12-52675414-CGCCACCTCCAGAGCCATAGCT-C
gnomAD v4: 12-52675414-CGCCACCTCCAGAGCCATAGCT-C
MyVariant Identifiers: chr12:g.53069199_53069219del (hg19) chr12:g.52675415_52675435del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675424_52675444del , CM000674.2:g.52675424_52675444del GRCh38
NC_000012.11:g.53069208_53069228del , CM000674.1:g.53069208_53069228del GRCh37
NC_000012.10:g.51355475_51355495del NCBI36
NG_008364.1:g.9973_9993del
NG_008364.2:g.9973_9993del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1693_1713del MANE Select ENSP00000252244.3:p.Ser565_Gly571del
NM_006121.3:c.1693_1713del NP_006112.3:p.Ser565_Gly571del
NM_006121.4:c.1693_1713del MANE Select NP_006112.3:p.Ser565_Gly571del
Search 100 bp 5'
Search 100 bp 3'