Canonical Allele Identifier: CA2693015557

Gene: ARSL

Linked Data

• gnomAD v4: X-2934858-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2934860del , CM000685.2:g.2934860del	GRCh38
NC_000023.10:g.2852901del , CM000685.1:g.2852901del	GRCh37
NC_000023.9:g.2862901del	NCBI36
NG_007091.1:g.34412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540563.6:c.1743del	ENSP00000438198.2:p.Trp581CysfsTer14
ENST00000681963.1:c.1818del	ENSP00000507760.1:p.Trp606CysfsTer14
ENST00000682184.1:c.1620del	ENSP00000507043.1:p.Trp540CysfsTer14
ENST00000682364.1:c.1182del	ENSP00000507604.1:p.Trp394CysfsTer?
ENST00000683191.1:n.1523del
ENST00000683290.1:c.1818del	ENSP00000508156.1:p.Trp606CysfsTer14
ENST00000683677.1:c.1731del	ENSP00000506786.1:p.Trp577CysfsTer14
ENST00000684077.1:c.1296del	ENSP00000506767.1:p.Trp432CysfsTer?
ENST00000684117.1:c.1581del	ENSP00000508337.1:p.Trp527CysfsTer14
ENST00000684364.1:c.1731del	ENSP00000507304.1:p.Trp577CysfsTer14
ENST00000684738.1:c.1182del	ENSP00000507481.1:p.Trp394CysfsTer?
ENST00000381134.9:c.1743del MANE Select	ENSP00000370526.3:p.Trp581CysfsTer14
ENST00000545496.6:c.1818del	ENSP00000441417.1:p.Trp606CysfsTer14
ENST00000672027.1:c.1818del	ENSP00000500220.1:p.Trp606CysfsTer?
ENST00000672097.1:c.1740del	ENSP00000500727.1:p.Trp580CysfsTer14
ENST00000672761.1:c.1581del	ENSP00000500108.1:p.Trp527CysfsTer14
ENST00000673032.1:c.1581del	ENSP00000500778.1:p.Trp527CysfsTer14
ENST00000381134.7:c.1743del	ENSP00000370526.3:p.Trp581CysfsTer14
ENST00000540563.5:c.1608del	ENSP00000438198.1:p.Trp536CysfsTer14
ENST00000545496.5:c.1818del	ENSP00000441417.1:p.Trp606CysfsTer14
NM_000047.2:c.1743del	NP_000038.2:p.Trp581CysfsTer14
NM_001282628.1:c.1818del	NP_001269557.1:p.Trp606CysfsTer14
NM_001282631.1:c.1608del	NP_001269560.1:p.Trp536CysfsTer14
XM_005274518.2:c.1770del	XP_005274575.1:p.Trp590CysfsTer14
XM_005274519.3:c.1743del	XP_005274576.1:p.Trp581CysfsTer14
XM_005274521.3:c.1581del	XP_005274578.1:p.Trp527CysfsTer14
XM_011545519.1:c.1581del	XP_011543821.1:p.Trp527CysfsTer14
XM_011545520.1:c.1257del	XP_011543822.1:p.Trp419CysfsTer14
XM_011545521.1:c.1182del	XP_011543823.1:p.Trp394CysfsTer14
XM_005274519.4:c.1743del	XP_005274576.1:p.Trp581CysfsTer14
XM_005274521.4:c.1581del	XP_005274578.1:p.Trp527CysfsTer14
XM_017029525.1:c.1818del	XP_016885014.1:p.Trp606CysfsTer14
XM_017029526.1:c.1257del	XP_016885015.1:p.Trp419CysfsTer14
NM_000047.3:c.1743del MANE Select	NP_000038.2:p.Trp581CysfsTer14
NM_001282631.2:c.1581del	NP_001269560.2:p.Trp527CysfsTer14
NM_001369079.1:c.1770del	NP_001356008.1:p.Trp590CysfsTer14
NM_001369080.1:c.1818del	NP_001356009.1:p.Trp606CysfsTer14
NM_001282628.2:c.1818del	NP_001269557.1:p.Trp606CysfsTer14