Canonical Allele Identifier: CA2663344527
Gene: KCNE4 HGNC NCBI

Linked Data

gnomAD v4: 2-223053565-GCCGCGGAGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053566_223053574del , CM000664.2:g.223053566_223053574del GRCh38
NC_000002.11:g.223918284_223918292del , CM000664.1:g.223918284_223918292del GRCh37
NC_000002.10:g.223626528_223626536del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.*223_*231del MANE Select ENSP00000281830.5:n.*223_*231del
ENST00000281830.3:c.*223_*231del ENSP00000281830.4:n.*223_*231del
ENST00000488477.2:n.75+1292_75+1300del
NM_080671.3:c.*223_*231del NP_542402.3:n.*223_*231del
NM_080671.4:c.*223_*231del MANE Select NP_542402.4:n.*223_*231del
Search 100 bp 5'
Search 100 bp 3'