Canonical Allele Identifier: CA2657593181

Gene: ARSA

Linked Data

• gnomAD v4: 22-50626613-CCAGCGTCTCTTCAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626618_50626632del , CM000684.2:g.50626618_50626632del	GRCh38
NC_000022.10:g.51065046_51065060del , CM000684.1:g.51065046_51065060del	GRCh37
NC_000022.9:g.49411912_49411926del	NCBI36
NG_009260.2:g.6552_6566del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.817_831del MANE Select	ENSP00000216124.5:p.Leu273_Leu277del
ENST00000216124.9:c.817_831del	ENSP00000216124.5:p.Leu273_Leu277del
ENST00000356098.9:c.817_831del	ENSP00000348406.5:p.Leu273_Leu277del
ENST00000395619.3:c.817_831del	ENSP00000378981.3:p.Leu273_Leu277del
ENST00000395621.7:c.817_831del	ENSP00000378983.3:p.Leu273_Leu277del
ENST00000453344.6:c.559_573del	ENSP00000412542.2:p.Leu187_Leu191del
ENST00000551731.1:n.1394_1408del
NM_000487.5:c.817_831del	NP_000478.3:p.Leu273_Leu277del
NM_001085425.2:c.817_831del	NP_001078894.2:p.Leu273_Leu277del
NM_001085426.2:c.817_831del	NP_001078895.2:p.Leu273_Leu277del
NM_001085427.2:c.817_831del	NP_001078896.2:p.Leu273_Leu277del
NM_001085428.2:c.559_573del	NP_001078897.1:p.Leu187_Leu191del
XM_011530690.1:c.559_573del	XP_011528992.1:p.Leu187_Leu191del
XM_011530691.1:c.817_831del	XP_011528993.1:p.Leu273_Leu277del
NM_001362782.1:c.559_573del	NP_001349711.1:p.Leu187_Leu191del
XM_011530691.3:c.817_831del	XP_011528993.1:p.Leu273_Leu277del
XM_017028800.1:c.817_831del	XP_016884289.1:p.Leu273_Leu277del
XM_024452241.1:c.817_831del	XP_024308009.1:p.Leu273_Leu277del
NM_000487.6:c.817_831del MANE Select	NP_000478.3:p.Leu273_Leu277del
NM_001085425.3:c.817_831del	NP_001078894.2:p.Leu273_Leu277del
NM_001085426.3:c.817_831del	NP_001078895.2:p.Leu273_Leu277del
NM_001085427.3:c.817_831del	NP_001078896.2:p.Leu273_Leu277del
NM_001085428.3:c.559_573del	NP_001078897.1:p.Leu187_Leu191del
NM_001362782.2:c.559_573del	NP_001349711.1:p.Leu187_Leu191del