Canonical Allele Identifier: CA2014342658

Gene: EMG1

Linked Data

• dbSNP Id: rs1946370864

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974570_6974620del , CM000674.2:g.6974570_6974620del	GRCh38
NC_000012.11:g.7083732_7083782del , CM000674.1:g.7083732_7083782del	GRCh37
NC_000012.10:g.6953993_6954043del	NCBI36
NG_021408.1:g.8790_8840del
NG_021408.2:g.8790_8840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.289_339del MANE Select	ENSP00000470560.1:p.Asp97_Gln113del
ENST00000261406.7:c.271_321del	ENSP00000476966.2:p.Asp91_Gln107del
ENST00000539196.2:c.152_202del
ENST00000599672.5:c.289_339del	ENSP00000470560.1:p.Asp97_Gln113del
ENST00000607161.5:c.292_342del	ENSP00000480420.1:p.Asp98_Gln114del
ENST00000611981.1:n.300_350del
ENST00000620255.1:n.389_439del
NM_006331.7:c.289_339del	NP_006322.4:p.Asp97_Gln113del
XM_011520907.1:c.289_339del	XP_011519209.1:p.Asp97_Gln113del
NM_001320049.1:c.289_339del	NP_001306978.1:p.Asp97_Gln113del
NR_135131.1:n.432_482del
NM_006331.8:c.289_339del MANE Select	NP_006322.4:p.Asp97_Gln113del
NM_001320049.2:c.289_339del	NP_001306978.1:p.Asp97_Gln113del
NR_135131.2:n.300_350del