Canonical Allele Identifier: CA748724224

Gene: SYNJ1

Linked Data

• ClinVar Variation Id: 2183710
• ClinVar RCV Id: RCV002599750
• dbSNP Id: rs1263172248
• gnomAD v3: 21-32645807-GGTA-G
• gnomAD v4: 21-32645807-GGTA-G
• MyVariant Identifiers: chr21:g.34018118_34018120del (hg19) ; chr21:g.32645808_32645810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32645808_32645810del , CM000683.2:g.32645808_32645810del	GRCh38
NC_000021.8:g.34018118_34018120del , CM000683.1:g.34018118_34018120del	GRCh37
NC_000021.7:g.32939989_32939991del	NCBI36
NG_030017.1:g.87232_87234del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382499.7:c.3365-21_3365-19del	ENSP00000371939.2:n.3365-21_3365-19del
ENST00000433931.7:c.3365-21_3365-19del	ENSP00000409667.2:n.3365-21_3365-19del
ENST00000630077.3:c.3233-21_3233-19del	ENSP00000487560.1:n.3233-21_3233-19del
ENST00000674204.1:c.3248-21_3248-19del	ENSP00000501504.1:n.3248-21_3248-19del
ENST00000674308.1:c.3248-21_3248-19del	ENSP00000501426.1:n.3248-21_3248-19del
ENST00000674351.1:c.3248-21_3248-19del MANE Select	ENSP00000501530.1:n.3248-21_3248-19del
ENST00000357345.7:c.3248-21_3248-19del	ENSP00000349903.3:n.3248-21_3248-19del
ENST00000382491.7:c.3233-21_3233-19del	ENSP00000371931.4:n.3233-21_3233-19del
ENST00000382499.6:c.3365-21_3365-19del	ENSP00000371939.2:n.3365-21_3365-19del
ENST00000433931.6:c.3365-21_3365-19del	ENSP00000409667.2:n.3365-21_3365-19del
ENST00000630077.2:c.3233-21_3233-19del	ENSP00000487560.1:n.3233-21_3233-19del
NM_001160302.1:c.3248-21_3248-19del	NP_001153774.1:n.3248-21_3248-19del
NM_001160306.1:c.3233-21_3233-19del	NP_001153778.1:n.3233-21_3233-19del
NM_003895.3:c.3365-21_3365-19del	NP_003886.3:n.3365-21_3365-19del
NM_203446.2:c.3365-21_3365-19del	NP_982271.2:n.3365-21_3365-19del
XM_017028494.1:c.3248-21_3248-19del	XP_016883983.1:n.3248-21_3248-19del
XM_017028495.2:c.3350-21_3350-19del	XP_016883984.1:n.3350-21_3350-19del
XM_017028496.1:c.3248-21_3248-19del	XP_016883985.1:n.3248-21_3248-19del
XM_017028497.2:c.3365-21_3365-19del	XP_016883986.1:n.3365-21_3365-19del
XM_017028498.1:c.3248-21_3248-19del	XP_016883987.1:n.3248-21_3248-19del
XM_017028499.2:c.3350-21_3350-19del	XP_016883988.1:n.3350-21_3350-19del
XM_017028500.1:c.3248-21_3248-19del	XP_016883989.1:n.3248-21_3248-19del
XM_017028501.1:c.3248-21_3248-19del	XP_016883990.1:n.3248-21_3248-19del
XM_017028502.1:c.3248-21_3248-19del	XP_016883991.1:n.3248-21_3248-19del
XM_017028503.1:c.3248-21_3248-19del	XP_016883992.1:n.3248-21_3248-19del
XM_017028504.1:c.3248-21_3248-19del	XP_016883993.1:n.3248-21_3248-19del
XM_017028505.2:c.3350-21_3350-19del	XP_016883994.1:n.3350-21_3350-19del
NM_001160306.2:c.3233-21_3233-19del	NP_001153778.1:n.3233-21_3233-19del
NM_203446.3:c.3248-21_3248-19del MANE Select	NP_982271.3:n.3248-21_3248-19del