Canonical Allele Identifier: CA2410958403

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625286_50625287delinsCA , CM000684.2:g.50625286_50625287delinsCA	GRCh38
NC_000022.10:g.51063714_51063715delinsCA , CM000684.1:g.51063714_51063715delinsCA	GRCh37
NC_000022.9:g.49410580_49410581delinsCA	NCBI36
NG_009260.2:g.7893_7894delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1388_1389delinsTG MANE Select	ENSP00000216124.5:p.Leu463=
ENST00000216124.9:c.1388_1389delinsTG	ENSP00000216124.5:p.Leu463=
ENST00000356098.9:c.1388_1389delinsTG	ENSP00000348406.5:p.Leu463=
ENST00000395619.3:c.1388_1389delinsTG	ENSP00000378981.3:p.Leu463=
ENST00000395621.7:c.1388_1389delinsTG	ENSP00000378983.3:p.Leu463=
ENST00000453344.6:c.1130_1131delinsTG	ENSP00000412542.2:p.Leu377=
ENST00000608497.1:c.180+76_180+77delinsTG
NM_000487.5:c.1388_1389delinsTG	NP_000478.3:p.Leu463=
NM_001085425.2:c.1388_1389delinsTG	NP_001078894.2:p.Leu463=
NM_001085426.2:c.1388_1389delinsTG	NP_001078895.2:p.Leu463=
NM_001085427.2:c.1388_1389delinsTG	NP_001078896.2:p.Leu463=
NM_001085428.2:c.1130_1131delinsTG	NP_001078897.1:p.Leu377=
XM_011530690.1:c.1130_1131delinsTG	XP_011528992.1:p.Leu377=
XM_011530691.1:c.*121_*122delinsTG	XP_011528993.1:n.*121_*122delinsTG
NM_001362782.1:c.1130_1131delinsTG	NP_001349711.1:p.Leu377=
XM_011530691.3:c.*121_*122delinsTG	XP_011528993.1:n.*121_*122delinsTG
XM_017028800.1:c.1502_1503delinsTG	XP_016884289.1:p.Leu501=
XM_024452241.1:c.*121_*122delinsTG	XP_024308009.1:n.*121_*122delinsTG
NM_000487.6:c.1388_1389delinsTG MANE Select	NP_000478.3:p.Leu463=
NM_001085425.3:c.1388_1389delinsTG	NP_001078894.2:p.Leu463=
NM_001085426.3:c.1388_1389delinsTG	NP_001078895.2:p.Leu463=
NM_001085427.3:c.1388_1389delinsTG	NP_001078896.2:p.Leu463=
NM_001085428.3:c.1130_1131delinsTG	NP_001078897.1:p.Leu377=
NM_001362782.2:c.1130_1131delinsTG	NP_001349711.1:p.Leu377=