Canonical Allele Identifier: CA638542814

Gene: SNAP29

Linked Data

• dbSNP Id: rs575240461
• gnomAD v2: 22-21242599-TCACACACACACACACA-T
• gnomAD v3: 22-20888311-TCACACACACACACACA-T
• gnomAD v4: 22-20888311-TCACACACACACACACA-T
• MyVariant Identifiers: chr22:g.21242600_21242615del (hg19) ; chr22:g.20888312_20888327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20888341_20888356del , CM000684.2:g.20888341_20888356del	GRCh38
NC_000022.10:g.21242629_21242644del , CM000684.1:g.21242629_21242644del	GRCh37
NC_000022.9:g.19572629_19572644del	NCBI36
NG_012152.1:g.34338_34353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215730.12:c.*505_*520del MANE Select	ENSP00000215730.6:n.*505_*520del
ENST00000215730.11:c.*505_*520del	ENSP00000215730.6:n.*505_*520del
NM_004782.3:c.*505_*520del	NP_004773.1:n.*505_*520del
NM_004782.4:c.*505_*520del MANE Select	NP_004773.1:n.*505_*520del