Canonical Allele Identifier: CA2657594917

Gene: ARSA

Linked Data

• gnomAD v4: 22-50627793-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50627794dup , CM000684.2:g.50627794dup	GRCh38
NC_000022.10:g.51066222dup , CM000684.1:g.51066222dup	GRCh37
NC_000022.9:g.49413088dup	NCBI36
NG_009260.2:g.5386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.-15dup MANE Select	ENSP00000216124.5:n.-15dup
ENST00000216124.9:c.-15dup	ENSP00000216124.5:n.-15dup
ENST00000356098.9:c.-13-2dup	ENSP00000348406.5:n.-13-2dup
ENST00000395619.3:c.-13-2dup	ENSP00000378981.3:n.-13-2dup
ENST00000395621.7:c.-13-2dup	ENSP00000378983.3:n.-13-2dup
ENST00000453344.6:c.-35+152dup	ENSP00000412542.2:n.-35+152dup
ENST00000551731.1:n.377dup
NM_000487.5:c.-15dup	NP_000478.3:n.-15dup
NM_001085425.2:c.-13-2dup	NP_001078894.2:n.-13-2dup
NM_001085426.2:c.-13-2dup	NP_001078895.2:n.-13-2dup
NM_001085427.2:c.-13-2dup	NP_001078896.2:n.-13-2dup
NM_001085428.2:c.-35+152dup	NP_001078897.1:n.-35+152dup
XM_011530690.1:c.-35+197dup	XP_011528992.1:n.-35+197dup
XM_011530691.1:c.-15dup	XP_011528993.1:n.-15dup
NM_001362782.1:c.-35+197dup	NP_001349711.1:n.-35+197dup
XM_011530691.3:c.-15dup	XP_011528993.1:n.-15dup
XM_017028800.1:c.-13-2dup	XP_016884289.1:n.-13-2dup
XM_024452241.1:c.-13-2dup	XP_024308009.1:n.-13-2dup
NM_000487.6:c.-15dup MANE Select	NP_000478.3:n.-15dup
NM_001085425.3:c.-13-2dup	NP_001078894.2:n.-13-2dup
NM_001085426.3:c.-13-2dup	NP_001078895.2:n.-13-2dup
NM_001085427.3:c.-13-2dup	NP_001078896.2:n.-13-2dup
NM_001085428.3:c.-35+152dup	NP_001078897.1:n.-35+152dup
NM_001362782.2:c.-35+197dup	NP_001349711.1:n.-35+197dup