Canonical Allele Identifier: CA640051134

Gene: ARSA

Linked Data

• dbSNP Id: rs1569074788
• gnomAD v2: 22-51061586-CGT-C
• gnomAD v3: 22-50623158-CGT-C
• gnomAD v4: 22-50623158-CGT-C
• MyVariant Identifiers: chr22:g.51061587_51061588del (hg19) ; chr22:g.50623159_50623160del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623162_50623163del , CM000684.2:g.50623162_50623163del	GRCh38
NC_000022.10:g.51061590_51061591del , CM000684.1:g.51061590_51061591del	GRCh37
NC_000022.9:g.49408456_49408457del	NCBI36
NG_009260.2:g.10020_10021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*1985_*1986del MANE Select	ENSP00000216124.5:n.*1985_*1986del
ENST00000608497.1:c.303-133_303-132del
ENST00000610191.1:n.167_168del
NM_000487.5:c.*1985_*1986del	NP_000478.3:n.*1985_*1986del
NM_001085425.2:c.*1985_*1986del	NP_001078894.2:n.*1985_*1986del
NM_001085426.2:c.*1985_*1986del	NP_001078895.2:n.*1985_*1986del
NM_001085427.2:c.*1985_*1986del	NP_001078896.2:n.*1985_*1986del
NM_001085428.2:c.*1985_*1986del	NP_001078897.1:n.*1985_*1986del
NM_001362782.1:c.*1985_*1986del	NP_001349711.1:n.*1985_*1986del
NM_000487.6:c.*1985_*1986del MANE Select	NP_000478.3:n.*1985_*1986del
NM_001085425.3:c.*1985_*1986del	NP_001078894.2:n.*1985_*1986del
NM_001085426.3:c.*1985_*1986del	NP_001078895.2:n.*1985_*1986del
NM_001085427.3:c.*1985_*1986del	NP_001078896.2:n.*1985_*1986del
NM_001085428.3:c.*1985_*1986del	NP_001078897.1:n.*1985_*1986del
NM_001362782.2:c.*1985_*1986del	NP_001349711.1:n.*1985_*1986del