Canonical Allele Identifier: CA638542811
Gene: SNAP29 HGNC NCBI

Linked Data

dbSNP Id: rs1929069076
gnomAD v2: 22-21242598-TTCACA-T
gnomAD v3: 22-20888310-TTCACA-T
gnomAD v4: 22-20888310-TTCACA-T
MyVariant Identifiers: chr22:g.21242599_21242603del (hg19) chr22:g.20888311_20888315del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888311_20888315del , CM000684.2:g.20888311_20888315del GRCh38
NC_000022.10:g.21242599_21242603del , CM000684.1:g.21242599_21242603del GRCh37
NC_000022.9:g.19572599_19572603del NCBI36
NG_012152.1:g.34308_34312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*475_*479del MANE Select ENSP00000215730.6:n.*475_*479del
ENST00000215730.11:c.*475_*479del ENSP00000215730.6:n.*475_*479del
NM_004782.3:c.*475_*479del NP_004773.1:n.*475_*479del
NM_004782.4:c.*475_*479del MANE Select NP_004773.1:n.*475_*479del
Search 100 bp 5'
Search 100 bp 3'