Canonical Allele Identifier: CA741073173

Gene: SNAP25

Linked Data

• dbSNP Id: rs1429693998
• gnomAD v3: 20-10239672-G-GGAAACTGAGGTTCTAA
• gnomAD v4: 20-10239672-G-GGAAACTGAGGTTCTAA
• MyVariant Identifiers: chr20:g.10220320_10220321insGAAACTGAGGTTCTAA (hg19) ; chr20:g.10239672_10239673insGAAACTGAGGTTCTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10239676_10239691dup , CM000682.2:g.10239676_10239691dup	GRCh38
NC_000020.10:g.10220324_10220339dup , CM000682.1:g.10220324_10220339dup	GRCh37
NC_000020.9:g.10168324_10168339dup	NCBI36
NG_029626.1:g.25848_25863dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000706269.1:c.-64+20463_-64+20478dup	ENSP00000516314.1:n.-64+20463_-64+20478dup
ENST00000685131.1:c.-64+1650_-64+1665dup	ENSP00000508837.1:n.-64+1650_-64+1665dup
ENST00000687785.1:c.-241-4299_-241-4284dup	ENSP00000510219.1:n.-241-4299_-241-4284dup
ENST00000689077.1:n.393-35753_393-35738dup
ENST00000689248.1:n.97-5076_97-5061dup
ENST00000689757.1:c.-109+12238_-109+12253dup	ENSP00000509312.1:n.-109+12238_-109+12253dup
ENST00000689858.1:c.-123-4299_-123-4284dup	ENSP00000510663.1:n.-123-4299_-123-4284dup
ENST00000690099.1:n.393-35753_393-35738dup
ENST00000690766.1:n.393-35753_393-35738dup
ENST00000690812.1:c.-168-4299_-168-4284dup	ENSP00000509287.1:n.-168-4299_-168-4284dup
ENST00000691161.1:c.-64+12238_-64+12253dup	ENSP00000510109.1:n.-64+12238_-64+12253dup
ENST00000691353.1:c.-263+20463_-263+20478dup	ENSP00000509759.1:n.-263+20463_-263+20478dup
ENST00000691665.1:c.-64+5339_-64+5354dup	ENSP00000508541.1:n.-64+5339_-64+5354dup
ENST00000692411.1:c.-149+20699_-149+20714dup	ENSP00000508939.1:n.-149+20699_-149+20714dup
ENST00000693325.1:c.-64+12238_-64+12253dup	ENSP00000510558.1:n.-64+12238_-64+12253dup
ENST00000693732.1:n.393-35753_393-35738dup
ENST00000254976.7:c.-64+20699_-64+20714dup MANE Select	ENSP00000254976.3:n.-64+20699_-64+20714dup
ENST00000254976.6:c.-64+20699_-64+20714dup	ENSP00000254976.2:n.-64+20699_-64+20714dup
ENST00000304886.6:c.-64+20699_-64+20714dup	ENSP00000307341.2:n.-64+20699_-64+20714dup
ENST00000430336.1:c.-64+20463_-64+20478dup	ENSP00000400720.1:n.-64+20463_-64+20478dup
NM_003081.3:c.-64+20699_-64+20714dup	NP_003072.2:n.-64+20699_-64+20714dup
NM_130811.2:c.-64+20699_-64+20714dup	NP_570824.1:n.-64+20699_-64+20714dup
XM_005260808.3:c.-64+20463_-64+20478dup	XP_005260865.1:n.-64+20463_-64+20478dup
XM_005260810.3:c.-64+20463_-64+20478dup	XP_005260867.1:n.-64+20463_-64+20478dup
NM_001322902.1:c.-64+20463_-64+20478dup	NP_001309831.1:n.-64+20463_-64+20478dup
NM_001322903.1:c.-64+5339_-64+5354dup	NP_001309832.1:n.-64+5339_-64+5354dup
NM_001322904.1:c.-64+12238_-64+12253dup	NP_001309833.1:n.-64+12238_-64+12253dup
NM_001322905.1:c.-123-4299_-123-4284dup	NP_001309834.1:n.-123-4299_-123-4284dup
NM_001322906.1:c.-64+1650_-64+1665dup	NP_001309835.1:n.-64+1650_-64+1665dup
NM_001322907.1:c.-64+12238_-64+12253dup	NP_001309836.1:n.-64+12238_-64+12253dup
NM_001322908.1:c.-241-4299_-241-4284dup	NP_001309837.1:n.-241-4299_-241-4284dup
NM_001322909.1:c.-108-19681_-108-19666dup	NP_001309838.1:n.-108-19681_-108-19666dup
NM_001322910.1:c.-64+12238_-64+12253dup	NP_001309839.1:n.-64+12238_-64+12253dup
NM_003081.4:c.-64+20699_-64+20714dup	NP_003072.2:n.-64+20699_-64+20714dup
NM_130811.3:c.-64+20699_-64+20714dup	NP_570824.1:n.-64+20699_-64+20714dup
XM_005260808.5:c.-64+20463_-64+20478dup	XP_005260865.1:n.-64+20463_-64+20478dup
XM_017028021.2:c.-123-4299_-123-4284dup	XP_016883510.1:n.-123-4299_-123-4284dup
XM_017028022.1:c.-64+1650_-64+1665dup	XP_016883511.1:n.-64+1650_-64+1665dup
NM_001322902.2:c.-64+20463_-64+20478dup	NP_001309831.1:n.-64+20463_-64+20478dup
NM_001322903.2:c.-64+5339_-64+5354dup	NP_001309832.1:n.-64+5339_-64+5354dup
NM_001322904.2:c.-64+12238_-64+12253dup	NP_001309833.1:n.-64+12238_-64+12253dup
NM_001322905.2:c.-123-4299_-123-4284dup	NP_001309834.1:n.-123-4299_-123-4284dup
NM_001322906.2:c.-64+1650_-64+1665dup	NP_001309835.1:n.-64+1650_-64+1665dup
NM_001322907.2:c.-64+12238_-64+12253dup	NP_001309836.1:n.-64+12238_-64+12253dup
NM_001322908.2:c.-241-4299_-241-4284dup	NP_001309837.1:n.-241-4299_-241-4284dup
NM_001322909.2:c.-108-19681_-108-19666dup	NP_001309838.1:n.-108-19681_-108-19666dup
NM_001322910.2:c.-64+12238_-64+12253dup	NP_001309839.1:n.-64+12238_-64+12253dup
NM_003081.5:c.-64+20699_-64+20714dup	NP_003072.2:n.-64+20699_-64+20714dup
NM_130811.4:c.-64+20699_-64+20714dup MANE Select	NP_570824.1:n.-64+20699_-64+20714dup