Canonical Allele Identifier: CA6422702

Gene: EMG1

Linked Data

• dbSNP Id: rs782413775
• ExAC: 12:7083640 CTG / C
• gnomAD v2: 12-7083640-CTG-C
• gnomAD v3: 12-6974478-CTG-C
• gnomAD v4: 12-6974478-CTG-C
• MyVariant Identifiers: chr12:g.7083641_7083642del (hg19) ; chr12:g.6974479_6974480del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974480_6974481del , CM000674.2:g.6974480_6974481del	GRCh38
NC_000012.11:g.7083642_7083643del , CM000674.1:g.7083642_7083643del	GRCh37
NC_000012.10:g.6953903_6953904del	NCBI36
NG_021408.1:g.8700_8701del
NG_021408.2:g.8700_8701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.270+40_270+41del MANE Select	ENSP00000470560.1:n.270+40_270+41del
ENST00000261406.7:c.252+40_252+41del	ENSP00000476966.2:n.252+40_252+41del
ENST00000539196.2:c.133+40_133+41del
ENST00000599672.5:c.270+40_270+41del	ENSP00000470560.1:n.270+40_270+41del
ENST00000607161.5:c.273+40_273+41del	ENSP00000480420.1:n.273+40_273+41del
ENST00000611981.1:n.281+40_281+41del
ENST00000620255.1:n.299_300del
NM_006331.7:c.270+40_270+41del	NP_006322.4:n.270+40_270+41del
XM_011520907.1:c.270+40_270+41del	XP_011519209.1:n.270+40_270+41del
NM_001320049.1:c.270+40_270+41del	NP_001306978.1:n.270+40_270+41del
NR_135131.1:n.413+40_413+41del
NM_006331.8:c.270+40_270+41del MANE Select	NP_006322.4:n.270+40_270+41del
NM_001320049.2:c.270+40_270+41del	NP_001306978.1:n.270+40_270+41del
NR_135131.2:n.281+40_281+41del