Canonical Allele Identifier: CA2599088821

Gene: ASL

Linked Data

• gnomAD v3: 7-66086775-C-CGGCTGCTGGAGGTGCG
• gnomAD v4: 7-66086775-C-CGGCTGCTGGAGGTGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086777_66086792dup , CM000669.2:g.66086777_66086792dup	GRCh38
NC_000007.13:g.65551764_65551779dup , CM000669.1:g.65551764_65551779dup	GRCh37
NC_000007.12:g.65189199_65189214dup	NCBI36
NG_009288.1:g.15989_16004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.558_573dup MANE Select	ENSP00000307188.9:p.Lys192AlafsTer?
ENST00000362000.10:c.363_378dup	ENSP00000354710.6:p.Lys127AlafsTer?
ENST00000380839.9:c.524+115_524+130dup	ENSP00000370219.4:n.524+115_524+130dup
ENST00000395331.4:c.558_573dup	ENSP00000378740.3:p.Lys192AlafsTer?
ENST00000395332.8:c.558_573dup	ENSP00000378741.3:p.Lys192AlafsTer?
ENST00000671817.1:c.524+115_524+130dup	ENSP00000500462.1:n.524+115_524+130dup
ENST00000672498.1:c.447-952_447-937dup	ENSP00000500227.1:n.447-952_447-937dup
ENST00000672586.1:n.463_478dup
ENST00000672676.1:n.728_743dup
ENST00000673149.1:n.370_385dup
ENST00000673350.1:n.806_821dup
ENST00000673518.1:c.524+115_524+130dup	ENSP00000499889.1:n.524+115_524+130dup
ENST00000673594.1:n.407_422dup
ENST00000304874.13:c.558_573dup	ENSP00000307188.9:p.Lys192AlafsTer?
ENST00000362000.9:c.363_378dup	ENSP00000354710.5:p.Lys127AlafsTer?
ENST00000380839.8:c.524+115_524+130dup	ENSP00000370219.4:n.524+115_524+130dup
ENST00000395331.3:c.558_573dup	ENSP00000378740.3:p.Lys192AlafsTer?
ENST00000395332.7:c.558_573dup	ENSP00000378741.3:p.Lys192AlafsTer?
ENST00000487982.5:n.624_639dup
NM_000048.3:c.558_573dup	NP_000039.2:p.Lys192AlafsTer?
NM_001024943.1:c.558_573dup	NP_001020114.1:p.Lys192AlafsTer?
NM_001024944.1:c.558_573dup	NP_001020115.1:p.Lys192AlafsTer?
NM_001024946.1:c.524+115_524+130dup	NP_001020117.1:n.524+115_524+130dup
NM_000048.4:c.558_573dup MANE Select	NP_000039.2:p.Lys192AlafsTer?
NM_001024943.2:c.558_573dup	NP_001020114.1:p.Lys192AlafsTer?
NM_001024944.2:c.558_573dup	NP_001020115.1:p.Lys192AlafsTer?
NM_001024946.2:c.524+115_524+130dup	NP_001020117.1:n.524+115_524+130dup