Canonical Allele Identifier: CA2617379575

Gene: EMG1

Linked Data

• gnomAD v4: 12-6974504-G-GCCAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974505_6974506insCAACC , CM000674.2:g.6974505_6974506insCAACC	GRCh38
NC_000012.11:g.7083667_7083668insCAACC , CM000674.1:g.7083667_7083668insCAACC	GRCh37
NC_000012.10:g.6953928_6953929insCAACC	NCBI36
NG_021408.1:g.8725_8726insCAACC
NG_021408.2:g.8725_8726insCAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.271-47_271-46insCAACC MANE Select	ENSP00000470560.1:n.271-47_271-46insCAACC
ENST00000261406.7:c.253-47_253-46insCAACC	ENSP00000476966.2:n.253-47_253-46insCAACC
ENST00000539196.2:c.134-47_134-46insCAACC
ENST00000599672.5:c.271-47_271-46insCAACC	ENSP00000470560.1:n.271-47_271-46insCAACC
ENST00000607161.5:c.274-47_274-46insCAACC	ENSP00000480420.1:n.274-47_274-46insCAACC
ENST00000611981.1:n.282-47_282-46insCAACC
ENST00000620255.1:n.324_325insCAACC
NM_006331.7:c.271-47_271-46insCAACC	NP_006322.4:n.271-47_271-46insCAACC
XM_011520907.1:c.271-47_271-46insCAACC	XP_011519209.1:n.271-47_271-46insCAACC
NM_001320049.1:c.271-47_271-46insCAACC	NP_001306978.1:n.271-47_271-46insCAACC
NR_135131.1:n.414-47_414-46insCAACC
NM_006331.8:c.271-47_271-46insCAACC MANE Select	NP_006322.4:n.271-47_271-46insCAACC
NM_001320049.2:c.271-47_271-46insCAACC	NP_001306978.1:n.271-47_271-46insCAACC
NR_135131.2:n.282-47_282-46insCAACC