Canonical Allele Identifier: CA10602468
Community Standard Title: NM_001013838.3(CARMIL2):c.490dup (p.Ala164GlyfsTer4)
Gene: CARMIL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67646737dup , CM000678.2:g.67646737dup GRCh38
NC_000016.9:g.67680640dup , CM000678.1:g.67680640dup GRCh37
NC_000016.8:g.66238141dup NCBI36
NG_054728.1:g.6819dup

Transcript Alleles

HGVS Amino-acid Change
NM_001013838.3:c.490dup MANE Select NP_001013860.1:p.Ala164GlyfsTer4
ENST00000334583.11:c.490dup MANE Select ENSP00000334958.5:p.Ala164GlyfsTer4
NM_001013838.1:c.490dup NP_001013860.1:p.Ala164GlyfsTer4
NM_001013838.2:c.490dup NP_001013860.1:p.Ala164GlyfsTer4
NM_001317026.1:c.490dup NP_001303955.1:p.Ala164GlyfsTer4
NM_001317026.2:c.490dup NP_001303955.1:p.Ala164GlyfsTer4
NM_001317026.3:c.490dup NP_001303955.1:p.Ala164GlyfsTer4
ENST00000334583.10:c.490dup ENSP00000334958.5:p.Ala164GlyfsTer4
ENST00000545661.5:c.490dup ENSP00000441481.1:p.Ala164GlyfsTer4
ENST00000602563.1:c.*230dup ENSP00000473580.1:n.*230dup
ENST00000696044.1:c.*306dup ENSP00000512348.1:n.*306dup
ENST00000696175.1:c.490dup ENSP00000512465.1:p.Ala164GlyfsTer4
ENST00000696176.1:c.490dup ENSP00000512466.1:p.Ala164GlyfsTer4
XM_011522874.1:c.490dup XP_011521176.1:p.Ala164GlyfsTer4
XM_011522875.2:c.490dup XP_011521177.2:p.Ala164GlyfsTer4
XM_017022953.1:c.490dup XP_016878442.1:p.Ala164GlyfsTer4
XR_001751843.1:n.733dup
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