Canonical Allele Identifier: CA751562888
Gene: SNAP29 HGNC NCBI

Linked Data

dbSNP Id: rs575240461
gnomAD v3: 22-20888311-TCACACACACACACACACA-T
gnomAD v4: 22-20888311-TCACACACACACACACACA-T
MyVariant Identifiers: chr22:g.21242600_21242617del (hg19) chr22:g.20888312_20888329del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888339_20888356del , CM000684.2:g.20888339_20888356del GRCh38
NC_000022.10:g.21242627_21242644del , CM000684.1:g.21242627_21242644del GRCh37
NC_000022.9:g.19572627_19572644del NCBI36
NG_012152.1:g.34336_34353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*503_*520del MANE Select ENSP00000215730.6:n.*503_*520del
ENST00000215730.11:c.*503_*520del ENSP00000215730.6:n.*503_*520del
NM_004782.3:c.*503_*520del NP_004773.1:n.*503_*520del
NM_004782.4:c.*503_*520del MANE Select NP_004773.1:n.*503_*520del
Search 100 bp 5'
Search 100 bp 3'