Canonical Allele Identifier: CA2036689816
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs1939866625
gnomAD v4: 12-52809369-GATGGAGCCCTC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52809371_52809381del , CM000674.2:g.52809371_52809381del GRCh38
NC_000012.11:g.53203155_53203165del , CM000674.1:g.53203155_53203165del GRCh37
NC_000012.10:g.51489422_51489432del NCBI36
NG_007380.1:g.10172_10182del

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.834+3_834+13del MANE Select ENSP00000448220.1:n.834+3_834+13del
ENST00000548097.5:c.*346+3_*346+13del ENSP00000449755.1:n.*346+3_*346+13del
ENST00000549295.1:n.271_281del
ENST00000551956.1:c.834+3_834+13del ENSP00000448220.1:n.834+3_834+13del
NM_002272.3:c.834+3_834+13del NP_002263.3:n.834+3_834+13del
NM_002272.4:c.834+3_834+13del MANE Select NP_002263.3:n.834+3_834+13del
Search 100 bp 5'
Search 100 bp 3'