Canonical Allele Identifier: CA10653232
Gene: SNAP29 HGNC NCBI

Linked Data

ClinVar Variation Id: 340849
ClinVar RCV Id: RCV000311933
dbSNP Id: rs371833796
gnomAD v2: 22-21242637-ACACACACT-A
gnomAD v3: 22-20888349-ACACACACT-A
gnomAD v4: 22-20888349-ACACACACT-A
COSMIC: COSN20117161
MyVariant Identifiers: chr22:g.21242639_21242646del (hg19) chr22:g.21242638_21242645del (hg19) chr22:g.20888351_20888358del (hg38) chr22:g.20888350_20888357del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888351_20888358del , CM000684.2:g.20888351_20888358del GRCh38
NC_000022.10:g.21242639_21242646del , CM000684.1:g.21242639_21242646del GRCh37
NC_000022.9:g.19572639_19572646del NCBI36
NG_012152.1:g.34348_34355del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*515_*522del MANE Select ENSP00000215730.6:n.*515_*522del
ENST00000215730.11:c.*515_*522del ENSP00000215730.6:n.*515_*522del
NM_004782.3:c.*515_*522del NP_004773.1:n.*515_*522del
NM_004782.4:c.*515_*522del MANE Select NP_004773.1:n.*515_*522del
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Search 100 bp 3'