Canonical Allele Identifier: CA322277763
Gene: SNAP29 HGNC NCBI

Linked Data

dbSNP Id: rs766278567
gnomAD v4: 22-20888353-ACACTCT-A
MyVariant Identifiers: chr22:g.21242642_21242647del (hg19) chr22:g.20888354_20888359del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888355_20888360del , CM000684.2:g.20888355_20888360del GRCh38
NC_000022.10:g.21242643_21242648del , CM000684.1:g.21242643_21242648del GRCh37
NC_000022.9:g.19572643_19572648del NCBI36
NG_012152.1:g.34352_34357del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*519_*524del MANE Select ENSP00000215730.6:n.*519_*524del
ENST00000215730.11:c.*519_*524del ENSP00000215730.6:n.*519_*524del
NM_004782.3:c.*519_*524del NP_004773.1:n.*519_*524del
NM_004782.4:c.*519_*524del MANE Select NP_004773.1:n.*519_*524del
Search 100 bp 5'
Search 100 bp 3'