Canonical Allele Identifier: CA2966292068

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840051dup , CM000679.2:g.75840051dup	GRCh38
NC_000017.10:g.73836132dup , CM000679.1:g.73836132dup	GRCh37
NC_000017.9:g.71347727dup	NCBI36
NG_007266.1:g.9667dup , LRG_122:g.9667dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587504.6:c.899dup	ENSP00000514388.1:p.Ser300ArgfsTer?
ENST00000592386.6:c.900dup	ENSP00000466826.2:p.Gln301AlafsTer?
ENST00000699511.1:c.98dup
ENST00000207549.9:c.918dup MANE Select	ENSP00000207549.3:p.Gln307AlafsTer?
ENST00000207549.8:c.918dup	ENSP00000207549.3:p.Gln307AlafsTer?
ENST00000412096.6:c.918dup	ENSP00000388093.1:p.Gln307AlafsTer?
ENST00000586147.1:c.118-3795dup	ENSP00000466543.1:n.118-3795dup
ENST00000587105.1:c.140dup
ENST00000587504.5:n.921dup
ENST00000591563.5:n.1113dup
ENST00000592386.5:c.897dup	ENSP00000466826.1:p.Gln300AlafsTer?
NM_199242.2:c.918dup , LRG_122t1:c.918dup	NP_954712.1:p.Gln307AlafsTer?
XM_011524504.1:c.918dup	XP_011522806.1:p.Gln307AlafsTer?
XM_011524505.1:c.918dup	XP_011522807.1:p.Gln307AlafsTer?
XM_011524506.1:c.918dup	XP_011522808.1:p.Gln307AlafsTer?
XM_011524507.1:c.309dup	XP_011522809.1:p.Gln104AlafsTer?
XM_011524508.1:c.309dup	XP_011522810.1:p.Gln104AlafsTer?
XM_011524504.2:c.918dup	XP_011522806.1:p.Gln307AlafsTer?
XM_011524507.2:c.309dup	XP_011522809.1:p.Gln104AlafsTer?
XM_024450640.1:c.309dup	XP_024306408.1:p.Gln104AlafsTer?
NM_199242.3:c.918dup MANE Select	NP_954712.1:p.Gln307AlafsTer?