Canonical Allele Identifier: CA2617379547

Gene: EMG1

Linked Data

• gnomAD v4: 12-6974395-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6974397del , CM000674.2:g.6974397del	GRCh38
NC_000012.11:g.7083559del , CM000674.1:g.7083559del	GRCh37
NC_000012.10:g.6953820del	NCBI36
NG_021408.1:g.8617del
NG_021408.2:g.8617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599672.6:c.227del MANE Select	ENSP00000470560.1:p.Asn76MetfsTer18
ENST00000261406.7:c.209del	ENSP00000476966.2:p.Asn70MetfsTer18
ENST00000539196.2:c.90del
ENST00000599672.5:c.227del	ENSP00000470560.1:p.Asn76MetfsTer18
ENST00000607161.5:c.230del	ENSP00000480420.1:p.Asn77MetfsTer18
ENST00000611981.1:n.238del
ENST00000620255.1:n.216del
NM_006331.7:c.227del	NP_006322.4:p.Asn76MetfsTer18
XM_011520907.1:c.227del	XP_011519209.1:p.Asn76MetfsTer18
NM_001320049.1:c.227del	NP_001306978.1:p.Asn76MetfsTer18
NR_135131.1:n.370del
NM_006331.8:c.227del MANE Select	NP_006322.4:p.Asn76MetfsTer18
NM_001320049.2:c.227del	NP_001306978.1:p.Asn76MetfsTer18
NR_135131.2:n.238del