Canonical Allele Identifier: CA603487434

Gene: EMG1

Linked Data

• dbSNP Id: rs1555152758
• gnomAD v2: 12-7083670-CCT-C
• gnomAD v4: 12-6974508-CCT-C
• MyVariant Identifiers: chr12:g.7083671_7083672del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974513_6974514del , CM000674.2:g.6974513_6974514del	GRCh38
NC_000012.11:g.7083675_7083676del , CM000674.1:g.7083675_7083676del	GRCh37
NC_000012.10:g.6953936_6953937del	NCBI36
NG_021408.1:g.8733_8734del
NG_021408.2:g.8733_8734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.271-39_271-38del MANE Select	ENSP00000470560.1:n.271-39_271-38del
ENST00000261406.7:c.253-39_253-38del	ENSP00000476966.2:n.253-39_253-38del
ENST00000539196.2:c.134-39_134-38del
ENST00000599672.5:c.271-39_271-38del	ENSP00000470560.1:n.271-39_271-38del
ENST00000607161.5:c.274-39_274-38del	ENSP00000480420.1:n.274-39_274-38del
ENST00000611981.1:n.282-39_282-38del
ENST00000620255.1:n.332_333del
NM_006331.7:c.271-39_271-38del	NP_006322.4:n.271-39_271-38del
XM_011520907.1:c.271-39_271-38del	XP_011519209.1:n.271-39_271-38del
NM_001320049.1:c.271-39_271-38del	NP_001306978.1:n.271-39_271-38del
NR_135131.1:n.414-39_414-38del
NM_006331.8:c.271-39_271-38del MANE Select	NP_006322.4:n.271-39_271-38del
NM_001320049.2:c.271-39_271-38del	NP_001306978.1:n.271-39_271-38del
NR_135131.2:n.282-39_282-38del