Canonical Allele Identifier: CA638542843
Gene: SNAP29 HGNC NCBI

Linked Data

dbSNP Id: rs1189704840
gnomAD v2: 22-21242643-ACT-A
gnomAD v3: 22-20888355-ACT-A
gnomAD v4: 22-20888355-ACT-A
MyVariant Identifiers: chr22:g.21242644_21242645del (hg19) chr22:g.20888356_20888357del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888360_20888361del , CM000684.2:g.20888360_20888361del GRCh38
NC_000022.10:g.21242648_21242649del , CM000684.1:g.21242648_21242649del GRCh37
NC_000022.9:g.19572648_19572649del NCBI36
NG_012152.1:g.34357_34358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*524_*525del MANE Select ENSP00000215730.6:n.*524_*525del
ENST00000215730.11:c.*524_*525del ENSP00000215730.6:n.*524_*525del
NM_004782.3:c.*524_*525del NP_004773.1:n.*524_*525del
NM_004782.4:c.*524_*525del MANE Select NP_004773.1:n.*524_*525del
Search 100 bp 5'
Search 100 bp 3'