Canonical Allele Identifier: CA673262298

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1378142963
• gnomAD v3: 11-128891447-G-GAGAA
• gnomAD v4: 11-128891447-G-GAGAA
• MyVariant Identifiers: chr11:g.128761342_128761343insAGAA (hg19) ; chr11:g.128891447_128891448insAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891450_128891451insAAGA , CM000673.2:g.128891450_128891451insAAGA	GRCh38
NC_000011.9:g.128761345_128761346insAAGA , CM000673.1:g.128761345_128761346insAAGA	GRCh37
NC_000011.8:g.128266555_128266556insAAGA	NCBI36
NG_023406.2:g.5033_5034insAAGA , LRG_333:g.5033_5034insAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-282_-281insAAGA MANE Select	ENSP00000433295.1:n.-282_-281insAAGA
ENST00000529694.5:c.-282_-281insAAGA	ENSP00000433295.1:n.-282_-281insAAGA
NM_000890.3:c.-282_-281insAAGA , LRG_333t1:c.-282_-281insAAGA	NP_000881.3:n.-282_-281insAAGA
NM_000890.4:c.-282_-281insAAGA	NP_000881.3:n.-282_-281insAAGA
NM_001354169.1:c.-371_-370insAAGA	NP_001341098.1:n.-371_-370insAAGA
NM_000890.5:c.-282_-281insAAGA MANE Select	NP_000881.3:n.-282_-281insAAGA
NM_001354169.2:c.-371_-370insAAGA	NP_001341098.1:n.-371_-370insAAGA