Canonical Allele Identifier: CA322277744

Gene: SNAP29

Linked Data

• dbSNP Id: rs767197022
• gnomAD v2: 22-21242639-ACACACTCT-A
• gnomAD v3: 22-20888351-ACACACTCT-A
• gnomAD v4: 22-20888351-ACACACTCT-A
• MyVariant Identifiers: chr22:g.21242640_21242647del (hg19) ; chr22:g.20888352_20888359del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20888353_20888360del , CM000684.2:g.20888353_20888360del	GRCh38
NC_000022.10:g.21242641_21242648del , CM000684.1:g.21242641_21242648del	GRCh37
NC_000022.9:g.19572641_19572648del	NCBI36
NG_012152.1:g.34350_34357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215730.12:c.*517_*524del MANE Select	ENSP00000215730.6:n.*517_*524del
ENST00000215730.11:c.*517_*524del	ENSP00000215730.6:n.*517_*524del
NM_004782.3:c.*517_*524del	NP_004773.1:n.*517_*524del
NM_004782.4:c.*517_*524del MANE Select	NP_004773.1:n.*517_*524del