Canonical Allele Identifier: CA1026679507

Gene: ARSA

Linked Data

• gnomAD v3: 22-50624727-C-CTT
• gnomAD v4: 22-50624727-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624728_50624729insTT , CM000684.2:g.50624728_50624729insTT	GRCh38
NC_000022.10:g.51063156_51063157insTT , CM000684.1:g.51063156_51063157insTT	GRCh37
NC_000022.9:g.49410022_49410023insTT	NCBI36
NG_009260.2:g.8452_8453insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*417_*418insAA MANE Select	ENSP00000216124.5:n.*417_*418insAA
ENST00000608497.1:c.180+635_180+636insAA
NM_000487.5:c.*417_*418insAA	NP_000478.3:n.*417_*418insAA
NM_001085425.2:c.*417_*418insAA	NP_001078894.2:n.*417_*418insAA
NM_001085426.2:c.*417_*418insAA	NP_001078895.2:n.*417_*418insAA
NM_001085427.2:c.*417_*418insAA	NP_001078896.2:n.*417_*418insAA
NM_001085428.2:c.*417_*418insAA	NP_001078897.1:n.*417_*418insAA
NM_001362782.1:c.*417_*418insAA	NP_001349711.1:n.*417_*418insAA
NM_000487.6:c.*417_*418insAA MANE Select	NP_000478.3:n.*417_*418insAA
NM_001085425.3:c.*417_*418insAA	NP_001078894.2:n.*417_*418insAA
NM_001085426.3:c.*417_*418insAA	NP_001078895.2:n.*417_*418insAA
NM_001085427.3:c.*417_*418insAA	NP_001078896.2:n.*417_*418insAA
NM_001085428.3:c.*417_*418insAA	NP_001078897.1:n.*417_*418insAA
NM_001362782.2:c.*417_*418insAA	NP_001349711.1:n.*417_*418insAA