Canonical Allele Identifier: CA2626692203

Gene: EXOC3L4

Linked Data

• gnomAD v4: 14-103100445-T-TTCCGGCGAAGCTCCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103100449_103100465dup , CM000676.2:g.103100449_103100465dup	GRCh38
NC_000014.8:g.103566786_103566802dup , CM000676.1:g.103566786_103566802dup	GRCh37
NC_000014.7:g.102636539_102636555dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000687959.1:c.230_246dup	ENSP00000508483.1:p.Leu83GlyfsTer15
ENST00000688303.1:c.230_246dup MANE Select	ENSP00000509130.1:p.Leu83GlyfsTer15
ENST00000380069.7:c.230_246dup	ENSP00000369409.3:p.Leu83GlyfsTer15
ENST00000559116.1:c.122_138dup	ENSP00000454163.1:p.Leu47GlyfsTer15
NM_001077594.1:c.230_246dup	NP_001071062.1:p.Leu83GlyfsTer15
XM_011537323.1:c.404_420dup	XP_011535625.1:p.Leu141GlyfsTer15
XM_011537324.1:c.404_420dup	XP_011535626.1:p.Leu141GlyfsTer15
XM_011537325.1:c.230_246dup	XP_011535627.1:p.Leu83GlyfsTer15
XM_011537326.1:c.230_246dup	XP_011535628.1:p.Leu83GlyfsTer15
XM_011537327.1:c.230_246dup	XP_011535629.1:p.Leu83GlyfsTer15
XM_011537328.1:c.230_246dup	XP_011535630.1:p.Leu83GlyfsTer15
XM_011537329.1:c.230_246dup	XP_011535631.1:p.Leu83GlyfsTer15
XM_011537330.1:c.230_246dup	XP_011535632.1:p.Leu83GlyfsTer15
XM_011537331.1:c.230_246dup	XP_011535633.1:p.Leu83GlyfsTer15
XM_011537332.1:c.230_246dup	XP_011535634.1:p.Leu83GlyfsTer15
XM_011537333.1:c.341_357dup	XP_011535635.1:p.Leu120GlyfsTer15
XR_943558.1:n.959_975dup
XM_011537323.3:c.404_420dup	XP_011535625.1:p.Leu141GlyfsTer15
XM_011537324.2:c.404_420dup	XP_011535626.1:p.Leu141GlyfsTer15
XM_011537325.2:c.230_246dup	XP_011535627.1:p.Leu83GlyfsTer15
XM_011537327.2:c.230_246dup	XP_011535629.1:p.Leu83GlyfsTer15
XM_011537328.2:c.230_246dup	XP_011535630.1:p.Leu83GlyfsTer15
XM_011537329.2:c.230_246dup	XP_011535631.1:p.Leu83GlyfsTer15
XM_011537330.2:c.230_246dup	XP_011535632.1:p.Leu83GlyfsTer15
XM_011537332.2:c.230_246dup	XP_011535634.1:p.Leu83GlyfsTer15
XM_011537333.2:c.341_357dup	XP_011535635.1:p.Leu120GlyfsTer15
XR_943558.2:n.986_1002dup
NM_001077594.2:c.230_246dup MANE Select	NP_001071062.1:p.Leu83GlyfsTer15
NM_001394941.1:c.230_246dup	NP_001381870.1:p.Leu83GlyfsTer15
NM_001394942.1:c.230_246dup	NP_001381871.1:p.Leu83GlyfsTer15