Canonical Allele Identifier: CA1022001449

Gene: KCNE1

Linked Data

• ClinVar Variation Id: 1202620
• ClinVar RCV Id: RCV001568354
• dbSNP Id: rs1981025573
• gnomAD v3: 21-34449516-CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG-C
• gnomAD v4: 21-34449516-CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34449523_34449610del , CM000683.2:g.34449523_34449610del	GRCh38
NG_009091.1:g.66712_66799del , LRG_290:g.66712_66799del

Transcript Alleles

HGVS	Amino-acid change
ENST00000399286.3:c.31_118del MANE Select	ENSP00000382226.2:p.Pro11AlafsTer24
ENST00000337385.7:c.31_118del	ENSP00000337255.3:p.Pro11AlafsTer24
ENST00000399284.1:c.31_118del	ENSP00000382225.1:p.Pro11AlafsTer24
ENST00000399286.2:c.31_118del	ENSP00000382226.2:p.Pro11AlafsTer24
ENST00000399289.7:c.31_118del	ENSP00000382228.3:p.Pro11AlafsTer24
ENST00000416357.6:c.31_118del	ENSP00000416258.2:p.Pro11AlafsTer24
ENST00000432085.5:c.31_118del	ENSP00000412498.1:p.Pro11AlafsTer24
ENST00000611936.1:c.31_118del	ENSP00000478215.1:p.Pro11AlafsTer24
ENST00000621601.4:c.31_118del	ENSP00000483895.1:p.Pro11AlafsTer24
NM_000219.5:c.31_118del	NP_000210.2:p.Pro11AlafsTer24
NM_001127668.3:c.31_118del	NP_001121140.1:p.Pro11AlafsTer24
NM_001127669.3:c.31_118del	NP_001121141.1:p.Pro11AlafsTer24
NM_001127670.3:c.31_118del	NP_001121142.1:p.Pro11AlafsTer24
NM_001270402.2:c.31_118del	NP_001257331.1:p.Pro11AlafsTer24
NM_001270403.2:c.31_118del	NP_001257332.1:p.Pro11AlafsTer24
NM_001270404.2:c.31_118del	NP_001257333.1:p.Pro11AlafsTer24
NM_001270405.2:c.31_118del	NP_001257334.1:p.Pro11AlafsTer24
XM_011529555.1:c.13+5782_13+5869del	XP_011527857.1:n.13+5782_13+5869del
XM_011529557.1:c.279+9050_279+9137del	XP_011527859.1:n.279+9050_279+9137del
XM_017028342.1:c.94_181del	XP_016883831.1:p.Pro32AlafsTer24
NM_000219.6:c.31_118del MANE Select	NP_000210.2:p.Pro11AlafsTer24
NM_001127669.4:c.31_118del	NP_001121141.1:p.Pro11AlafsTer24
NM_001127668.4:c.31_118del	NP_001121140.1:p.Pro11AlafsTer24
NM_001127670.4:c.31_118del	NP_001121142.1:p.Pro11AlafsTer24
NM_001270402.3:c.31_118del	NP_001257331.1:p.Pro11AlafsTer24
NM_001270404.3:c.31_118del	NP_001257333.1:p.Pro11AlafsTer24
NM_001270405.3:c.31_118del	NP_001257334.1:p.Pro11AlafsTer24