Canonical Allele Identifier: CA8772966

Gene: UNC13D

Linked Data

• dbSNP Id: rs751147539
• ExAC: 17:73832210 CT / C
• gnomAD v2: 17-73832210-CT-C
• gnomAD v4: 17-75836129-CT-C
• MyVariant Identifiers: chr17:g.73832211del (hg19) ; chr17:g.75836130del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836130del , CM000679.2:g.75836130del	GRCh38
NC_000017.10:g.73832211del , CM000679.1:g.73832211del	GRCh37
NC_000017.9:g.71343806del	NCBI36
NG_007266.1:g.13588del , LRG_122:g.13588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699510.1:c.382-21del	ENSP00000514405.1:n.382-21del
ENST00000699511.1:c.624-21del
ENST00000207549.9:c.1447-21del MANE Select	ENSP00000207549.3:n.1447-21del
ENST00000207549.8:c.1447-21del	ENSP00000207549.3:n.1447-21del
ENST00000412096.6:c.1447-21del	ENSP00000388093.1:n.1447-21del
ENST00000586147.1:c.175-21del	ENSP00000466543.1:n.175-21del
ENST00000587105.1:c.566-21del
ENST00000591563.5:n.1717-21del
NM_199242.2:c.1447-21del , LRG_122t1:c.1447-21del	NP_954712.1:n.1447-21del
XM_011524504.1:c.1447-21del	XP_011522806.1:n.1447-21del
XM_011524505.1:c.1447-21del	XP_011522807.1:n.1447-21del
XM_011524506.1:c.1444-21del	XP_011522808.1:n.1444-21del
XM_011524507.1:c.838-21del	XP_011522809.1:n.838-21del
XM_011524508.1:c.838-21del	XP_011522810.1:n.838-21del
XM_011524504.2:c.1447-21del	XP_011522806.1:n.1447-21del
XM_011524507.2:c.838-21del	XP_011522809.1:n.838-21del
XM_024450640.1:c.838-21del	XP_024306408.1:n.838-21del
NM_199242.3:c.1447-21del MANE Select	NP_954712.1:n.1447-21del