Canonical Allele Identifier: CA645369791

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 430060
• ClinVar RCV Id: RCV002383948 ; RCV002475977
• dbSNP Id: rs1131691762
• gnomAD v4: 21-34449622-T-TA
• MyVariant Identifiers: chr21:g.34449623dup (hg38) ; chr21:g.34449622_34449623insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34449623dup , CM000683.2:g.34449623dup	GRCh38
NG_009091.1:g.66693dup , LRG_290:g.66693dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000399286.3:c.12dup MANE Select	ENSP00000382226.2:p.Asn5Ter
ENST00000337385.7:c.12dup	ENSP00000337255.3:p.Asn5Ter
ENST00000399284.1:c.12dup	ENSP00000382225.1:p.Asn5Ter
ENST00000399286.2:c.12dup	ENSP00000382226.2:p.Asn5Ter
ENST00000399289.7:c.12dup	ENSP00000382228.3:p.Asn5Ter
ENST00000416357.6:c.12dup	ENSP00000416258.2:p.Asn5Ter
ENST00000432085.5:c.12dup	ENSP00000412498.1:p.Asn5Ter
ENST00000611936.1:c.12dup	ENSP00000478215.1:p.Asn5Ter
ENST00000621601.4:c.12dup	ENSP00000483895.1:p.Asn5Ter
NM_000219.5:c.12dup	NP_000210.2:p.Asn5Ter
NM_001127668.3:c.12dup	NP_001121140.1:p.Asn5Ter
NM_001127669.3:c.12dup	NP_001121141.1:p.Asn5Ter
NM_001127670.3:c.12dup	NP_001121142.1:p.Asn5Ter
NM_001270402.2:c.12dup	NP_001257331.1:p.Asn5Ter
NM_001270403.2:c.12dup	NP_001257332.1:p.Asn5Ter
NM_001270404.2:c.12dup	NP_001257333.1:p.Asn5Ter
NM_001270405.2:c.12dup	NP_001257334.1:p.Asn5Ter
XM_011529555.1:c.13+5763dup	XP_011527857.1:n.13+5763dup
XM_011529557.1:c.279+9031dup	XP_011527859.1:n.279+9031dup
XM_017028342.1:c.75dup	XP_016883831.1:p.Asn26Ter
NM_000219.6:c.12dup MANE Select	NP_000210.2:p.Asn5Ter
NM_001127669.4:c.12dup	NP_001121141.1:p.Asn5Ter
NM_001127668.4:c.12dup	NP_001121140.1:p.Asn5Ter
NM_001127670.4:c.12dup	NP_001121142.1:p.Asn5Ter
NM_001270402.3:c.12dup	NP_001257331.1:p.Asn5Ter
NM_001270404.3:c.12dup	NP_001257333.1:p.Asn5Ter
NM_001270405.3:c.12dup	NP_001257334.1:p.Asn5Ter