Canonical Allele Identifier: CA638542836
Gene: SNAP29 HGNC NCBI

Linked Data

dbSNP Id: rs1569122227
gnomAD v2: 22-21242630-CA-C
gnomAD v3: 22-20888342-CA-C
gnomAD v4: 22-20888342-CA-C
MyVariant Identifiers: chr22:g.21242631del (hg19) chr22:g.20888343del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888343del , CM000684.2:g.20888343del GRCh38
NC_000022.10:g.21242631del , CM000684.1:g.21242631del GRCh37
NC_000022.9:g.19572631del NCBI36
NG_012152.1:g.34340del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*507del MANE Select ENSP00000215730.6:n.*507del
ENST00000215730.11:c.*507del ENSP00000215730.6:n.*507del
NM_004782.3:c.*507del NP_004773.1:n.*507del
NM_004782.4:c.*507del MANE Select NP_004773.1:n.*507del
Search 100 bp 5'
Search 100 bp 3'