Canonical Allele Identifier: CA638542845
Gene: SNAP29 HGNC NCBI

Linked Data

dbSNP Id: rs1491520721
gnomAD v2: 22-21242643-A-ACACT
gnomAD v3: 22-20888355-A-ACACT
gnomAD v4: 22-20888355-A-ACACT
MyVariant Identifiers: chr22:g.21242645delinsACTCT (hg19) chr22:g.21242643_21242644insCACT (hg19) chr22:g.20888357delinsACTCT (hg38) chr22:g.20888355_20888356insCACT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20888356_20888357insACTC , CM000684.2:g.20888356_20888357insACTC GRCh38
NC_000022.10:g.21242644_21242645insACTC , CM000684.1:g.21242644_21242645insACTC GRCh37
NC_000022.9:g.19572644_19572645insACTC NCBI36
NG_012152.1:g.34353_34354insACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000215730.12:c.*520_*521insACTC MANE Select ENSP00000215730.6:n.*520_*521insACTC
ENST00000215730.11:c.*520_*521insACTC ENSP00000215730.6:n.*520_*521insACTC
NM_004782.3:c.*520_*521insACTC NP_004773.1:n.*520_*521insACTC
NM_004782.4:c.*520_*521insACTC MANE Select NP_004773.1:n.*520_*521insACTC
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