Canonical Allele Identifier: CA513470819

Gene: SNAP29

Linked Data

• dbSNP Id: rs1393341010
• gnomAD v2: 22-21242446-ATGG-A
• gnomAD v3: 22-20888158-ATGG-A
• gnomAD v4: 22-20888158-ATGG-A
• MyVariant Identifiers: chr22:g.21242447_21242449del (hg19) ; chr22:g.20888159_20888161del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20888159_20888161del , CM000684.2:g.20888159_20888161del	GRCh38
NC_000022.10:g.21242447_21242449del , CM000684.1:g.21242447_21242449del	GRCh37
NC_000022.9:g.19572447_19572449del	NCBI36
NG_012152.1:g.34156_34158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215730.12:c.*323_*325del MANE Select	ENSP00000215730.6:n.*323_*325del
ENST00000215730.11:c.*323_*325del	ENSP00000215730.6:n.*323_*325del
NM_004782.3:c.*323_*325del	NP_004773.1:n.*323_*325del
NM_004782.4:c.*323_*325del MANE Select	NP_004773.1:n.*323_*325del