Canonical Allele Identifier: CA602366229

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1286930773
• gnomAD v2: 11-128735362-GA-G
• MyVariant Identifiers: chr11:g.128735363del (hg19) ; chr11:g.128865468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128865474del , CM000673.2:g.128865474del	GRCh38
NC_000011.9:g.128735369del , CM000673.1:g.128735369del	GRCh37
NC_000011.8:g.128240579del	NCBI36
NG_009379.1:g.6906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.-192+1705del MANE Select	ENSP00000376434.1:n.-192+1705del
ENST00000324003.3:c.-192+1705del	ENSP00000316136.3:n.-192+1705del
ENST00000324036.7:c.-192+1055del	ENSP00000316233.3:n.-192+1055del
ENST00000392665.6:c.-22+1705del	ENSP00000376433.2:n.-22+1705del
ENST00000392666.5:c.-192+1705del	ENSP00000376434.1:n.-192+1705del
ENST00000440599.6:c.-22+1055del	ENSP00000406320.2:n.-22+1055del
ENST00000531562.1:n.124+1705del
NM_153764.2:c.-22+1705del	NP_722448.1:n.-22+1705del
NM_153765.2:c.30+1055del	NP_722449.3:n.30+1055del
NM_153766.2:c.-192+1705del	NP_722450.1:n.-192+1705del
NM_153767.3:c.-192+1055del	NP_722451.1:n.-192+1055del
XR_001748442.1:n.3533-1276del
NM_153764.3:c.-22+1705del	NP_722448.1:n.-22+1705del
NM_153765.3:c.30+1055del	NP_722449.3:n.30+1055del
NM_153766.3:c.-192+1705del MANE Select	NP_722450.1:n.-192+1705del
NM_153767.4:c.-192+1055del	NP_722451.1:n.-192+1055del