Canonical Allele Identifier: CA2612638375

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17387021-TTCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387022_17387025del , CM000673.2:g.17387022_17387025del	GRCh38
NC_000011.9:g.17408569_17408572del , CM000673.1:g.17408569_17408572del	GRCh37
NC_000011.8:g.17365145_17365148del	NCBI36
NG_012446.1:g.6635_6638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.806_809del	ENSP00000508090.1:p.Leu269GlnfsTer3
ENST00000682764.1:c.806_809del	ENSP00000506780.1:p.Leu269GlnfsTer3
ENST00000339994.5:c.1067_1070del MANE Select	ENSP00000345708.4:p.Leu356GlnfsTer3
ENST00000339994.4:c.1067_1070del	ENSP00000345708.4:p.Leu356GlnfsTer3
ENST00000528731.1:c.806_809del	ENSP00000434755.1:p.Leu269GlnfsTer3
NM_000525.3:c.1067_1070del	NP_000516.3:p.Leu356GlnfsTer3
NM_001166290.1:c.806_809del	NP_001159762.1:p.Leu269GlnfsTer3
XM_006718226.2:c.806_809del	XP_006718289.1:p.Leu269GlnfsTer3
XR_930867.1:n.1225_1228del
XM_006718226.3:c.806_809del	XP_006718289.1:p.Leu269GlnfsTer3
XM_017017680.1:c.806_809del	XP_016873169.1:p.Leu269GlnfsTer3
NM_001166290.2:c.806_809del	NP_001159762.1:p.Leu269GlnfsTer3
NM_001377296.1:c.806_809del	NP_001364225.1:p.Leu269GlnfsTer3
NM_001377297.1:c.806_809del	NP_001364226.1:p.Leu269GlnfsTer3
NM_000525.4:c.1067_1070del MANE Select	NP_000516.3:p.Leu356GlnfsTer3