Canonical Allele Identifier: CA6586048
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1565646232
ExAC: 12:53069189 GGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC / G
gnomAD v2: 12-53069189-GGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC-G
gnomAD v4: 12-52675405-GGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCC-G
MyVariant Identifiers: chr12:g.53069190_53069270del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675427_52675507del , CM000674.2:g.52675427_52675507del GRCh38
NC_000012.11:g.53069211_53069291del , CM000674.1:g.53069211_53069291del GRCh37
NC_000012.10:g.51355478_51355558del NCBI36
NG_008364.1:g.9922_10002del
NG_008364.2:g.9922_10002del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1642_1722del MANE Select ENSP00000252244.3:p.Gly548_Gly574del
NM_006121.3:c.1642_1722del NP_006112.3:p.Gly548_Gly574del
NM_006121.4:c.1642_1722del MANE Select NP_006112.3:p.Gly548_Gly574del
Search 100 bp 5'
Search 100 bp 3'