Canonical Allele Identifier: CA6586033

Gene: KRT1

Linked Data

• dbSNP Id: rs765750895
• ExAC: 12:53069127 GCCGCCGCCTCCAGAGCCA / G
• gnomAD v2: 12-53069127-GCCGCCGCCTCCAGAGCCA-G
• gnomAD v4: 12-52675343-GCCGCCGCCTCCAGAGCCA-G
• MyVariant Identifiers: chr12:g.53069128_53069145del (hg19) ; chr12:g.52675344_52675361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675346_52675363del , CM000674.2:g.52675346_52675363del	GRCh38
NC_000012.11:g.53069130_53069147del , CM000674.1:g.53069130_53069147del	GRCh37
NC_000012.10:g.51355397_51355414del	NCBI36
NG_008364.1:g.10047_10064del
NG_008364.2:g.10047_10064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1767_1784del MANE Select	ENSP00000252244.3:p.Gly590_Gly595del
NM_006121.3:c.1767_1784del	NP_006112.3:p.Gly590_Gly595del
NM_006121.4:c.1767_1784del MANE Select	NP_006112.3:p.Gly590_Gly595del