Canonical Allele Identifier: CA6422697

Gene: EMG1

Linked Data

• dbSNP Id: rs782677923
• ExAC: 12:7083627 AC / A
• gnomAD v2: 12-7083627-AC-A
• gnomAD v3: 12-6974465-AC-A
• gnomAD v4: 12-6974465-AC-A
• MyVariant Identifiers: chr12:g.7083628del (hg19) ; chr12:g.6974466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974468del , CM000674.2:g.6974468del	GRCh38
NC_000012.11:g.7083630del , CM000674.1:g.7083630del	GRCh37
NC_000012.10:g.6953891del	NCBI36
NG_021408.1:g.8688del
NG_021408.2:g.8688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.270+28del MANE Select	ENSP00000470560.1:n.270+28del
ENST00000261406.7:c.252+28del	ENSP00000476966.2:n.252+28del
ENST00000539196.2:c.133+28del
ENST00000599672.5:c.270+28del	ENSP00000470560.1:n.270+28del
ENST00000607161.5:c.273+28del	ENSP00000480420.1:n.273+28del
ENST00000611981.1:n.281+28del
ENST00000620255.1:n.287del
NM_006331.7:c.270+28del	NP_006322.4:n.270+28del
XM_011520907.1:c.270+28del	XP_011519209.1:n.270+28del
NM_001320049.1:c.270+28del	NP_001306978.1:n.270+28del
NR_135131.1:n.413+28del
NM_006331.8:c.270+28del MANE Select	NP_006322.4:n.270+28del
NM_001320049.2:c.270+28del	NP_001306978.1:n.270+28del
NR_135131.2:n.281+28del