Canonical Allele Identifier: CA10645128
Gene: SNAP29 HGNC NCBI

Linked Data

ClinVar Variation Id: 340846
ClinVar RCV Id: RCV000345437
dbSNP Id: rs575240461
gnomAD v2: 22-21242599-TCA-T
gnomAD v3: 22-20888311-TCA-T
gnomAD v4: 22-20888311-TCA-T
MyVariant Identifiers: chr22:g.21242643_21242644del (hg19) chr22:g.21242614_21242615del (hg19) chr22:g.21242600_21242601del (hg19) chr22:g.20888355_20888356del (hg38) chr22:g.20888326_20888327del (hg38) chr22:g.20888312_20888313del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888355_20888356del , CM000684.2:g.20888355_20888356del GRCh38
NC_000022.10:g.21242643_21242644del , CM000684.1:g.21242643_21242644del GRCh37
NC_000022.9:g.19572643_19572644del NCBI36
NG_012152.1:g.34352_34353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*519_*520del MANE Select ENSP00000215730.6:n.*519_*520del
ENST00000215730.11:c.*519_*520del ENSP00000215730.6:n.*519_*520del
NM_004782.3:c.*519_*520del NP_004773.1:n.*519_*520del
NM_004782.4:c.*519_*520del MANE Select NP_004773.1:n.*519_*520del
Search 100 bp 5'
Search 100 bp 3'