Canonical Allele Identifier: CA751562928
Gene: SNAP29 HGNC NCBI

Linked Data

dbSNP Id: rs1236174317
gnomAD v3: 22-20888490-GTATAT-G
gnomAD v4: 22-20888490-GTATAT-G
MyVariant Identifiers: chr22:g.21242779_21242783del (hg19) chr22:g.20888491_20888495del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888493_20888497del , CM000684.2:g.20888493_20888497del GRCh38
NC_000022.10:g.21242781_21242785del , CM000684.1:g.21242781_21242785del GRCh37
NC_000022.9:g.19572781_19572785del NCBI36
NG_012152.1:g.34490_34494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*657_*661del MANE Select ENSP00000215730.6:n.*657_*661del
ENST00000215730.11:c.*657_*661del ENSP00000215730.6:n.*657_*661del
NM_004782.3:c.*657_*661del NP_004773.1:n.*657_*661del
NM_004782.4:c.*657_*661del MANE Select NP_004773.1:n.*657_*661del
Search 100 bp 5'
Search 100 bp 3'