Canonical Allele Identifier: CA2616775889

Gene: KCNJ5

Linked Data

• gnomAD v4: 11-128916510-G-GACTACAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916511_128916519dup , CM000673.2:g.128916511_128916519dup	GRCh38
NC_000011.9:g.128786406_128786414dup , CM000673.1:g.128786406_128786414dup	GRCh37
NC_000011.8:g.128291616_128291624dup	NCBI36
NG_023406.2:g.30094_30102dup , LRG_333:g.30094_30102dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.1040_1048dup MANE Select	ENSP00000433295.1:p.Asn349_Thr350insAsnTyrAsn
ENST00000338350.4:c.1040_1048dup	ENSP00000339960.4:p.Asn349_Thr350insAsnTyrAsn
ENST00000529694.5:c.1040_1048dup	ENSP00000433295.1:p.Asn349_Thr350insAsnTyrAsn
ENST00000533599.1:c.1040_1048dup	ENSP00000434266.1:p.Asn349_Thr350insAsnTyrAsn
NM_000890.3:c.1040_1048dup , LRG_333t1:c.1040_1048dup	NP_000881.3:p.Asn349_Thr350insAsnTyrAsn
XM_011542809.1:c.1040_1048dup	XP_011541111.1:p.Asn349_Thr350insAsnTyrAsn
XM_011542810.1:c.1040_1048dup	XP_011541112.1:p.Asn349_Thr350insAsnTyrAsn
NM_000890.4:c.1040_1048dup	NP_000881.3:p.Asn349_Thr350insAsnTyrAsn
NM_001354169.1:c.1040_1048dup	NP_001341098.1:p.Asn349_Thr350insAsnTyrAsn
XM_011542809.2:c.1040_1048dup	XP_011541111.1:p.Asn349_Thr350insAsnTyrAsn
XM_011542810.3:c.1040_1048dup	XP_011541112.1:p.Asn349_Thr350insAsnTyrAsn
NM_000890.5:c.1040_1048dup MANE Select	NP_000881.3:p.Asn349_Thr350insAsnTyrAsn
NM_001354169.2:c.1040_1048dup	NP_001341098.1:p.Asn349_Thr350insAsnTyrAsn