Canonical Allele Identifier: CA10324829

Gene: ARSA

Linked Data

• ClinVar Variation Id: 1655023
• ClinVar RCV Id: RCV002156499
• dbSNP Id: rs777871462
• ExAC: 22:51064353 AC / A
• gnomAD v4: 22-50625925-AC-A
• MyVariant Identifiers: chr22:g.51064354del (hg19) ; chr22:g.50625926del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625927del , CM000684.2:g.50625927del	GRCh38
NC_000022.10:g.51064355del , CM000684.1:g.51064355del	GRCh37
NC_000022.9:g.49411221del	NCBI36
NG_009260.2:g.7254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1107+10del MANE Select	ENSP00000216124.5:n.1107+10del
ENST00000216124.9:c.1107+10del	ENSP00000216124.5:n.1107+10del
ENST00000356098.9:c.1107+10del	ENSP00000348406.5:n.1107+10del
ENST00000395619.3:c.1107+10del	ENSP00000378981.3:n.1107+10del
ENST00000395621.7:c.1107+10del	ENSP00000378983.3:n.1107+10del
ENST00000453344.6:c.849+10del	ENSP00000412542.2:n.849+10del
NM_000487.5:c.1107+10del	NP_000478.3:n.1107+10del
NM_001085425.2:c.1107+10del	NP_001078894.2:n.1107+10del
NM_001085426.2:c.1107+10del	NP_001078895.2:n.1107+10del
NM_001085427.2:c.1107+10del	NP_001078896.2:n.1107+10del
NM_001085428.2:c.849+10del	NP_001078897.1:n.849+10del
XM_011530690.1:c.849+10del	XP_011528992.1:n.849+10del
XM_011530691.1:c.1107+10del	XP_011528993.1:n.1107+10del
NM_001362782.1:c.849+10del	NP_001349711.1:n.849+10del
XM_011530691.3:c.1107+10del	XP_011528993.1:n.1107+10del
XM_017028800.1:c.1107+10del	XP_016884289.1:n.1107+10del
XM_024452241.1:c.1107+10del	XP_024308009.1:n.1107+10del
NM_000487.6:c.1107+10del MANE Select	NP_000478.3:n.1107+10del
NM_001085425.3:c.1107+10del	NP_001078894.2:n.1107+10del
NM_001085426.3:c.1107+10del	NP_001078895.2:n.1107+10del
NM_001085427.3:c.1107+10del	NP_001078896.2:n.1107+10del
NM_001085428.3:c.849+10del	NP_001078897.1:n.849+10del
NM_001362782.2:c.849+10del	NP_001349711.1:n.849+10del