Canonical Allele Identifier: CA2617379577

Gene: EMG1

Linked Data

• gnomAD v4: 12-6974506-T-TCTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974506_6974507insCTTCA , CM000674.2:g.6974506_6974507insCTTCA	GRCh38
NC_000012.11:g.7083668_7083669insCTTCA , CM000674.1:g.7083668_7083669insCTTCA	GRCh37
NC_000012.10:g.6953929_6953930insCTTCA	NCBI36
NG_021408.1:g.8726_8727insCTTCA
NG_021408.2:g.8726_8727insCTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.271-46_271-45insCTTCA MANE Select	ENSP00000470560.1:n.271-46_271-45insCTTCA
ENST00000261406.7:c.253-46_253-45insCTTCA	ENSP00000476966.2:n.253-46_253-45insCTTCA
ENST00000539196.2:c.134-46_134-45insCTTCA
ENST00000599672.5:c.271-46_271-45insCTTCA	ENSP00000470560.1:n.271-46_271-45insCTTCA
ENST00000607161.5:c.274-46_274-45insCTTCA	ENSP00000480420.1:n.274-46_274-45insCTTCA
ENST00000611981.1:n.282-46_282-45insCTTCA
ENST00000620255.1:n.325_326insCTTCA
NM_006331.7:c.271-46_271-45insCTTCA	NP_006322.4:n.271-46_271-45insCTTCA
XM_011520907.1:c.271-46_271-45insCTTCA	XP_011519209.1:n.271-46_271-45insCTTCA
NM_001320049.1:c.271-46_271-45insCTTCA	NP_001306978.1:n.271-46_271-45insCTTCA
NR_135131.1:n.414-46_414-45insCTTCA
NM_006331.8:c.271-46_271-45insCTTCA MANE Select	NP_006322.4:n.271-46_271-45insCTTCA
NM_001320049.2:c.271-46_271-45insCTTCA	NP_001306978.1:n.271-46_271-45insCTTCA
NR_135131.2:n.282-46_282-45insCTTCA