Canonical Allele Identifier: CA645612061

Gene: ARSA

Linked Data

• COSMIC: COSM4566703

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50627182_50627183delinsAA , CM000684.2:g.50627182_50627183delinsAA	GRCh38
NC_000022.10:g.51065610_51065611delinsAA , CM000684.1:g.51065610_51065611delinsAA	GRCh37
NC_000022.9:g.49412476_49412477delinsAA	NCBI36
NG_009260.2:g.5997_5998delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.448_449delinsTT MANE Select	ENSP00000216124.5:p.Pro150Leu
ENST00000216124.9:c.448_449delinsTT	ENSP00000216124.5:p.Pro150Leu
ENST00000356098.9:c.448_449delinsTT	ENSP00000348406.5:p.Pro150Leu
ENST00000395619.3:c.448_449delinsTT	ENSP00000378981.3:p.Pro150Leu
ENST00000395621.7:c.448_449delinsTT	ENSP00000378983.3:p.Pro150Leu
ENST00000453344.6:c.190_191delinsTT	ENSP00000412542.2:p.Pro64Leu
ENST00000551731.1:n.839_840delinsTT
NM_000487.5:c.448_449delinsTT	NP_000478.3:p.Pro150Leu
NM_001085425.2:c.448_449delinsTT	NP_001078894.2:p.Pro150Leu
NM_001085426.2:c.448_449delinsTT	NP_001078895.2:p.Pro150Leu
NM_001085427.2:c.448_449delinsTT	NP_001078896.2:p.Pro150Leu
NM_001085428.2:c.190_191delinsTT	NP_001078897.1:p.Pro64Leu
XM_011530690.1:c.190_191delinsTT	XP_011528992.1:p.Pro64Leu
XM_011530691.1:c.448_449delinsTT	XP_011528993.1:p.Pro150Leu
NM_001362782.1:c.190_191delinsTT	NP_001349711.1:p.Pro64Leu
XM_011530691.3:c.448_449delinsTT	XP_011528993.1:p.Pro150Leu
XM_017028800.1:c.448_449delinsTT	XP_016884289.1:p.Pro150Leu
XM_024452241.1:c.448_449delinsTT	XP_024308009.1:p.Pro150Leu
NM_000487.6:c.448_449delinsTT MANE Select	NP_000478.3:p.Pro150Leu
NM_001085425.3:c.448_449delinsTT	NP_001078894.2:p.Pro150Leu
NM_001085426.3:c.448_449delinsTT	NP_001078895.2:p.Pro150Leu
NM_001085427.3:c.448_449delinsTT	NP_001078896.2:p.Pro150Leu
NM_001085428.3:c.190_191delinsTT	NP_001078897.1:p.Pro64Leu
NM_001362782.2:c.190_191delinsTT	NP_001349711.1:p.Pro64Leu