Canonical Allele Identifier: CA2839753938
Gene: KCNE4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.223053092_223053093del , CM000664.2:g.223053092_223053093del GRCh38
NC_000002.11:g.223917810_223917811del , CM000664.1:g.223917810_223917811del GRCh37
NC_000002.10:g.223626054_223626055del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281830.4:c.262_263del MANE Select ENSP00000281830.5:p.Pro88CysfsTer?
ENST00000281830.3:c.415_416del ENSP00000281830.4:p.Pro139CysfsTer?
ENST00000488477.2:n.75+818_75+819del
NM_080671.3:c.415_416del NP_542402.3:p.Pro139CysfsTer?
NM_080671.4:c.262_263del MANE Select NP_542402.4:p.Pro88CysfsTer?