Canonical Allele Identifier: CA935521537
Community Standard Title: NM_000525.4(KCNJ11):c.916dup (p.Ala306GlyfsTer3)
Gene: KCNJ11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387177dup , CM000673.2:g.17387177dup GRCh38
NC_000011.9:g.17408724dup , CM000673.1:g.17408724dup GRCh37
NC_000011.8:g.17365300dup NCBI36
NG_012446.1:g.6484dup

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.916dup MANE Select NP_000516.3:p.Ala306GlyfsTer3
ENST00000339994.5:c.916dup MANE Select ENSP00000345708.4:p.Ala306GlyfsTer3
NM_000525.3:c.916dup NP_000516.3:p.Ala306GlyfsTer3
NM_001166290.1:c.655dup NP_001159762.1:p.Ala219GlyfsTer3
NM_001166290.2:c.655dup NP_001159762.1:p.Ala219GlyfsTer3
NM_001377296.1:c.655dup NP_001364225.1:p.Ala219GlyfsTer3
NM_001377297.1:c.655dup NP_001364226.1:p.Ala219GlyfsTer3
ENST00000339994.4:c.916dup ENSP00000345708.4:p.Ala306GlyfsTer3
ENST00000528731.1:c.655dup ENSP00000434755.1:p.Ala219GlyfsTer3
ENST00000682350.1:c.655dup ENSP00000508090.1:p.Ala219GlyfsTer3
ENST00000682764.1:c.655dup ENSP00000506780.1:p.Ala219GlyfsTer3
XM_006718226.2:c.655dup XP_006718289.1:p.Ala219GlyfsTer3
XM_006718226.3:c.655dup XP_006718289.1:p.Ala219GlyfsTer3
XM_017017680.1:c.655dup XP_016873169.1:p.Ala219GlyfsTer3
XR_930867.1:n.1074dup
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