Canonical Allele Identifier: CA641900933

Gene: SYN1

Linked Data

• dbSNP Id: rs1455895158
• gnomAD v2: X-47434214-TACCAGCCAGTGGAGC-T
• gnomAD v3: X-47574815-TACCAGCCAGTGGAGC-T
• gnomAD v4: X-47574815-TACCAGCCAGTGGAGC-T
• MyVariant Identifiers: chrX:g.47434215_47434229del (hg19) ; chrX:g.47574816_47574830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574817_47574831del , CM000685.2:g.47574817_47574831del	GRCh38
NC_000023.10:g.47434216_47434230del , CM000685.1:g.47434216_47434230del	GRCh37
NC_000023.9:g.47319160_47319174del	NCBI36
NG_008437.1:g.50028_50042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1306-55_1306-41del MANE Select	ENSP00000295987.7:n.1306-55_1306-41del
ENST00000340666.5:c.1306-55_1306-41del	ENSP00000343206.4:n.1306-55_1306-41del
ENST00000295987.11:c.1306-55_1306-41del	ENSP00000295987.7:n.1306-55_1306-41del
ENST00000340666.4:c.1306-55_1306-41del	ENSP00000343206.4:n.1306-55_1306-41del
NM_006950.3:c.1306-55_1306-41del MANE Select	NP_008881.2:n.1306-55_1306-41del
NM_133499.2:c.1306-55_1306-41del	NP_598006.1:n.1306-55_1306-41del