Canonical Allele Identifier: CA268648160

Gene: EMC4

Linked Data

• dbSNP Id: rs969625937
• gnomAD v3: 15-34228359-TA-T
• gnomAD v4: 15-34228359-TA-T
• MyVariant Identifiers: chr15:g.34520561del (hg19) ; chr15:g.34228360del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228360del , CM000677.2:g.34228360del	GRCh38
NC_000015.9:g.34520561del , CM000677.1:g.34520561del	GRCh37
NC_000015.8:g.32307853del	NCBI36
NG_007951.1:g.114705del , LRG_270:g.114705del
NG_054746.1:g.8364del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267750.9:c.356-69del MANE Select	ENSP00000267750.4:n.356-69del
ENST00000249209.8:c.355+514del	ENSP00000249209.4:n.355+514del
ENST00000267750.8:c.356-69del	ENSP00000267750.4:n.356-69del
ENST00000557879.1:c.*232del	ENSP00000473881.1:n.*232del
ENST00000558102.1:c.*108+514del	ENSP00000453880.1:n.*108+514del
ENST00000558205.5:c.*109-69del	ENSP00000454042.1:n.*109-69del
ENST00000559078.5:c.303+566del	ENSP00000454052.1:n.303+566del
ENST00000559421.1:c.202-1393del	ENSP00000452672.1:n.202-1393del
ENST00000560911.5:c.*109-69del	ENSP00000453610.1:n.*109-69del
ENST00000560947.1:c.153-77del
ENST00000561246.1:n.1313+536del
NM_001286420.1:c.355+514del	NP_001273349.1:n.355+514del
NM_016454.3:c.356-69del	NP_057538.1:n.356-69del
NM_001351373.1:c.113-69del	NP_001338302.1:n.113-69del
NR_147140.1:n.481+514del
NM_016454.4:c.356-69del MANE Select	NP_057538.1:n.356-69del
NM_001286420.2:c.355+514del	NP_001273349.1:n.355+514del
NM_001351373.2:c.113-69del	NP_001338302.1:n.113-69del
NR_147140.2:n.462+514del