Canonical Allele Identifier: CA2654363384

Gene: KCNE1

Linked Data

• gnomAD v4: 21-34449165-CAATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34449168_34449171del , CM000683.2:g.34449168_34449171del	GRCh38
NG_009091.1:g.67147_67150del , LRG_290:g.67147_67150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399286.3:c.*76_*79del MANE Select	ENSP00000382226.2:n.*76_*79del
ENST00000337385.7:c.*76_*79del	ENSP00000337255.3:n.*76_*79del
ENST00000399286.2:c.*76_*79del	ENSP00000382226.2:n.*76_*79del
ENST00000399289.7:c.*76_*79del	ENSP00000382228.3:n.*76_*79del
ENST00000432085.5:c.*76_*79del	ENSP00000412498.1:n.*76_*79del
ENST00000611936.1:c.*76_*79del	ENSP00000478215.1:n.*76_*79del
ENST00000621601.4:c.*76_*79del	ENSP00000483895.1:n.*76_*79del
NM_000219.5:c.*76_*79del	NP_000210.2:n.*76_*79del
NM_001127668.3:c.*76_*79del	NP_001121140.1:n.*76_*79del
NM_001127669.3:c.*76_*79del	NP_001121141.1:n.*76_*79del
NM_001127670.3:c.*76_*79del	NP_001121142.1:n.*76_*79del
NM_001270402.2:c.*76_*79del	NP_001257331.1:n.*76_*79del
NM_001270403.2:c.*76_*79del	NP_001257332.1:n.*76_*79del
NM_001270404.2:c.*76_*79del	NP_001257333.1:n.*76_*79del
NM_001270405.2:c.*76_*79del	NP_001257334.1:n.*76_*79del
XM_011529555.1:c.13+6217_13+6220del	XP_011527857.1:n.13+6217_13+6220del
XM_011529557.1:c.279+9485_279+9488del	XP_011527859.1:n.279+9485_279+9488del
XM_017028342.1:c.*76_*79del	XP_016883831.1:n.*76_*79del
NM_000219.6:c.*76_*79del MANE Select	NP_000210.2:n.*76_*79del
NM_001127669.4:c.*76_*79del	NP_001121141.1:n.*76_*79del
NM_001127668.4:c.*76_*79del	NP_001121140.1:n.*76_*79del
NM_001127670.4:c.*76_*79del	NP_001121142.1:n.*76_*79del
NM_001270402.3:c.*76_*79del	NP_001257331.1:n.*76_*79del
NM_001270404.3:c.*76_*79del	NP_001257333.1:n.*76_*79del
NM_001270405.3:c.*76_*79del	NP_001257334.1:n.*76_*79del