Canonical Allele Identifier: CA2014342512
Gene: EMG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6974296_6974298delinsCAG , CM000674.2:g.6974296_6974298delinsCAG GRCh38
NC_000012.11:g.7083458_7083460delinsCAG , CM000674.1:g.7083458_7083460delinsCAG GRCh37
NC_000012.10:g.6953719_6953721delinsCAG NCBI36
NG_021408.1:g.8516_8518delinsCAG
NG_021408.2:g.8516_8518delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599672.6:c.169-43_169-41delinsCAG MANE Select ENSP00000470560.1:n.169-43_169-41delinsCAG
ENST00000261406.7:c.151-43_151-41delinsCAG ENSP00000476966.2:n.151-43_151-41delinsCAG
ENST00000539196.2:c.32-43_32-41delinsCAG
ENST00000599672.5:c.169-43_169-41delinsCAG ENSP00000470560.1:n.169-43_169-41delinsCAG
ENST00000607161.5:c.172-43_172-41delinsCAG ENSP00000480420.1:n.172-43_172-41delinsCAG
ENST00000611981.1:n.180-43_180-41delinsCAG
ENST00000620255.1:n.158-43_158-41delinsCAG
NM_006331.7:c.169-43_169-41delinsCAG NP_006322.4:n.169-43_169-41delinsCAG
XM_011520907.1:c.169-43_169-41delinsCAG XP_011519209.1:n.169-43_169-41delinsCAG
NM_001320049.1:c.169-43_169-41delinsCAG NP_001306978.1:n.169-43_169-41delinsCAG
NR_135131.1:n.312-43_312-41delinsCAG
NM_006331.8:c.169-43_169-41delinsCAG MANE Select NP_006322.4:n.169-43_169-41delinsCAG
NM_001320049.2:c.169-43_169-41delinsCAG NP_001306978.1:n.169-43_169-41delinsCAG
NR_135131.2:n.180-43_180-41delinsCAG