Canonical Allele Identifier: CA638542823
Gene: SNAP29 HGNC NCBI

Linked Data

gnomAD v2: 22-21242606-CACA-C
MyVariant Identifiers: chr22:g.21242607_21242609del (hg19) chr22:g.20888319_20888321del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888319_20888321del , CM000684.2:g.20888319_20888321del GRCh38
NC_000022.10:g.21242607_21242609del , CM000684.1:g.21242607_21242609del GRCh37
NC_000022.9:g.19572607_19572609del NCBI36
NG_012152.1:g.34316_34318del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*483_*485del MANE Select ENSP00000215730.6:n.*483_*485del
ENST00000215730.11:c.*483_*485del ENSP00000215730.6:n.*483_*485del
NM_004782.3:c.*483_*485del NP_004773.1:n.*483_*485del
NM_004782.4:c.*483_*485del MANE Select NP_004773.1:n.*483_*485del
Search 100 bp 5'
Search 100 bp 3'