Canonical Allele Identifier: CA2014342480

Gene: EMG1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974233_6974245delinsTTCCAGGTGCAGC , CM000674.2:g.6974233_6974245delinsTTCCAGGTGCAGC	GRCh38
NC_000012.11:g.7083395_7083407delinsTTCCAGGTGCAGC , CM000674.1:g.7083395_7083407delinsTTCCAGGTGCAGC	GRCh37
NC_000012.10:g.6953656_6953668delinsTTCCAGGTGCAGC	NCBI36
NG_021408.1:g.8453_8465delinsTTCCAGGTGCAGC
NG_021408.2:g.8453_8465delinsTTCCAGGTGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.169-106_169-94delinsTTCCAGGTGCAGC MANE Select	ENSP00000470560.1:n.169-106_169-94delinsTTCCAGGTGCAGC
ENST00000261406.7:c.151-106_151-94delinsTTCCAGGTGCAGC	ENSP00000476966.2:n.151-106_151-94delinsTTCCAGGTGCAGC
ENST00000539196.2:c.32-106_32-94delinsTTCCAGGTGCAGC
ENST00000599672.5:c.169-106_169-94delinsTTCCAGGTGCAGC	ENSP00000470560.1:n.169-106_169-94delinsTTCCAGGTGCAGC
ENST00000607161.5:c.172-106_172-94delinsTTCCAGGTGCAGC	ENSP00000480420.1:n.172-106_172-94delinsTTCCAGGTGCAGC
ENST00000611981.1:n.180-106_180-94delinsTTCCAGGTGCAGC
ENST00000620255.1:n.158-106_158-94delinsTTCCAGGTGCAGC
NM_006331.7:c.169-106_169-94delinsTTCCAGGTGCAGC	NP_006322.4:n.169-106_169-94delinsTTCCAGGTGCAGC
XM_011520907.1:c.169-106_169-94delinsTTCCAGGTGCAGC	XP_011519209.1:n.169-106_169-94delinsTTCCAGGTGCAGC
NM_001320049.1:c.169-106_169-94delinsTTCCAGGTGCAGC	NP_001306978.1:n.169-106_169-94delinsTTCCAGGTGCAGC
NR_135131.1:n.312-106_312-94delinsTTCCAGGTGCAGC
NM_006331.8:c.169-106_169-94delinsTTCCAGGTGCAGC MANE Select	NP_006322.4:n.169-106_169-94delinsTTCCAGGTGCAGC
NM_001320049.2:c.169-106_169-94delinsTTCCAGGTGCAGC	NP_001306978.1:n.169-106_169-94delinsTTCCAGGTGCAGC
NR_135131.2:n.180-106_180-94delinsTTCCAGGTGCAGC