Canonical Allele Identifier: CA2014342495

Gene: EMG1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974268_6974280delinsACACTTGAAGAAC , CM000674.2:g.6974268_6974280delinsACACTTGAAGAAC	GRCh38
NC_000012.11:g.7083430_7083442delinsACACTTGAAGAAC , CM000674.1:g.7083430_7083442delinsACACTTGAAGAAC	GRCh37
NC_000012.10:g.6953691_6953703delinsACACTTGAAGAAC	NCBI36
NG_021408.1:g.8488_8500delinsACACTTGAAGAAC
NG_021408.2:g.8488_8500delinsACACTTGAAGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.169-71_169-59delinsACACTTGAAGAAC MANE Select	ENSP00000470560.1:n.169-71_169-59delinsACACTTGAAGAAC
ENST00000261406.7:c.151-71_151-59delinsACACTTGAAGAAC	ENSP00000476966.2:n.151-71_151-59delinsACACTTGAAGAAC
ENST00000539196.2:c.32-71_32-59delinsACACTTGAAGAAC
ENST00000599672.5:c.169-71_169-59delinsACACTTGAAGAAC	ENSP00000470560.1:n.169-71_169-59delinsACACTTGAAGAAC
ENST00000607161.5:c.172-71_172-59delinsACACTTGAAGAAC	ENSP00000480420.1:n.172-71_172-59delinsACACTTGAAGAAC
ENST00000611981.1:n.180-71_180-59delinsACACTTGAAGAAC
ENST00000620255.1:n.158-71_158-59delinsACACTTGAAGAAC
NM_006331.7:c.169-71_169-59delinsACACTTGAAGAAC	NP_006322.4:n.169-71_169-59delinsACACTTGAAGAAC
XM_011520907.1:c.169-71_169-59delinsACACTTGAAGAAC	XP_011519209.1:n.169-71_169-59delinsACACTTGAAGAAC
NM_001320049.1:c.169-71_169-59delinsACACTTGAAGAAC	NP_001306978.1:n.169-71_169-59delinsACACTTGAAGAAC
NR_135131.1:n.312-71_312-59delinsACACTTGAAGAAC
NM_006331.8:c.169-71_169-59delinsACACTTGAAGAAC MANE Select	NP_006322.4:n.169-71_169-59delinsACACTTGAAGAAC
NM_001320049.2:c.169-71_169-59delinsACACTTGAAGAAC	NP_001306978.1:n.169-71_169-59delinsACACTTGAAGAAC
NR_135131.2:n.180-71_180-59delinsACACTTGAAGAAC