Canonical Allele Identifier: CA344713
Community Standard Title: NM_001482.3(GATM):c.1111dup (p.Met371AsnfsTer6)
Gene: GATM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45363948dup , CM000677.2:g.45363948dup GRCh38
NC_000015.9:g.45656146dup , CM000677.1:g.45656146dup GRCh37
NC_000015.8:g.43443438dup NCBI36
NG_011674.1:g.19835dup
NG_011674.2:g.43370dup

Transcript Alleles

HGVS Amino-acid Change
NM_001482.3:c.1111dup MANE Select NP_001473.1:p.Met371AsnfsTer6
ENST00000396659.8:c.1111dup MANE Select ENSP00000379895.3:p.Met371AsnfsTer6
NM_001321015.1:c.724dup NP_001307944.1:p.Met242AsnfsTer6
NM_001321015.2:c.724dup NP_001307944.1:p.Met242AsnfsTer6
NM_001482.2:c.1111dup NP_001473.1:p.Met371AsnfsTer6
ENST00000396659.7:c.1111dup ENSP00000379895.3:p.Met371AsnfsTer6
ENST00000558336.5:c.1111dup ENSP00000454008.1:p.Met371AsnfsTer6
ENST00000558362.5:n.2767dup
ENST00000674905.1:c.1111dup ENSP00000502176.1:p.Met371AsnfsTer6
ENST00000675158.1:c.*11dup ENSP00000501737.1:n.*11dup
ENST00000675323.1:c.1111dup ENSP00000502445.1:p.Met371AsnfsTer6
ENST00000675701.1:c.1051dup ENSP00000502671.1:p.Met351AsnfsTer6
ENST00000675974.1:n.1982dup
ENST00000676090.1:c.*1842dup ENSP00000501630.1:n.*1842dup
XM_011521450.1:c.1159dup XP_011519752.1:p.Met387AsnfsTer6
XM_011521451.1:c.1153dup XP_011519753.1:p.Met385AsnfsTer6
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