Canonical Allele Identifier: CA603487406

Gene: EMG1

Linked Data

• dbSNP Id: rs1555152684
• gnomAD v2: 12-7083511-CAT-C
• gnomAD v3: 12-6974349-CAT-C
• gnomAD v4: 12-6974349-CAT-C
• MyVariant Identifiers: chr12:g.7083512_7083513del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974352_6974353del , CM000674.2:g.6974352_6974353del	GRCh38
NC_000012.11:g.7083514_7083515del , CM000674.1:g.7083514_7083515del	GRCh37
NC_000012.10:g.6953775_6953776del	NCBI36
NG_021408.1:g.8572_8573del
NG_021408.2:g.8572_8573del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599672.6:c.182_183del MANE Select	ENSP00000470560.1:p.Tyr61Ter
ENST00000261406.7:c.164_165del	ENSP00000476966.2:p.Tyr55Ter
ENST00000539196.2:c.45_46del
ENST00000599672.5:c.182_183del	ENSP00000470560.1:p.Tyr61Ter
ENST00000607161.5:c.185_186del	ENSP00000480420.1:p.Tyr62Ter
ENST00000611981.1:n.193_194del
ENST00000620255.1:n.171_172del
NM_006331.7:c.182_183del	NP_006322.4:p.Tyr61Ter
XM_011520907.1:c.182_183del	XP_011519209.1:p.Tyr61Ter
NM_001320049.1:c.182_183del	NP_001306978.1:p.Tyr61Ter
NR_135131.1:n.325_326del
NM_006331.8:c.182_183del MANE Select	NP_006322.4:p.Tyr61Ter
NM_001320049.2:c.182_183del	NP_001306978.1:p.Tyr61Ter
NR_135131.2:n.193_194del