Canonical Allele Identifier: CA2683084447

Gene: ASL

Linked Data

• gnomAD v4: 7-66083116-T-TCCACG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083118_66083122dup , CM000669.2:g.66083118_66083122dup	GRCh38
NC_000007.13:g.65548105_65548109dup , CM000669.1:g.65548105_65548109dup	GRCh37
NC_000007.12:g.65185540_65185544dup	NCBI36
NG_009288.1:g.12330_12334dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.390_394dup MANE Select	ENSP00000307188.9:p.Leu132ProfsTer?
ENST00000362000.10:c.195_199dup	ENSP00000354710.6:p.Leu67ProfsTer?
ENST00000380839.9:c.390_394dup	ENSP00000370219.4:p.Leu132ProfsTer?
ENST00000395331.4:c.390_394dup	ENSP00000378740.3:p.Leu132ProfsTer?
ENST00000395332.8:c.390_394dup	ENSP00000378741.3:p.Leu132ProfsTer?
ENST00000671817.1:c.390_394dup	ENSP00000500462.1:p.Leu132ProfsTer?
ENST00000672498.1:c.390_394dup	ENSP00000500227.1:p.Leu132ProfsTer?
ENST00000672586.1:n.295_299dup
ENST00000672676.1:n.560_564dup
ENST00000673149.1:n.202_206dup
ENST00000673350.1:n.638_642dup
ENST00000673518.1:c.390_394dup	ENSP00000499889.1:p.Leu132ProfsTer?
ENST00000673594.1:n.239_243dup
ENST00000304874.13:c.390_394dup	ENSP00000307188.9:p.Leu132ProfsTer?
ENST00000362000.9:c.195_199dup	ENSP00000354710.5:p.Leu67ProfsTer?
ENST00000380839.8:c.390_394dup	ENSP00000370219.4:p.Leu132ProfsTer?
ENST00000395331.3:c.390_394dup	ENSP00000378740.3:p.Leu132ProfsTer?
ENST00000395332.7:c.390_394dup	ENSP00000378741.3:p.Leu132ProfsTer?
ENST00000487982.5:n.456_460dup
ENST00000496336.1:n.771_775dup
NM_000048.3:c.390_394dup	NP_000039.2:p.Leu132ProfsTer?
NM_001024943.1:c.390_394dup	NP_001020114.1:p.Leu132ProfsTer?
NM_001024944.1:c.390_394dup	NP_001020115.1:p.Leu132ProfsTer?
NM_001024946.1:c.390_394dup	NP_001020117.1:p.Leu132ProfsTer?
NM_000048.4:c.390_394dup MANE Select	NP_000039.2:p.Leu132ProfsTer?
NM_001024943.2:c.390_394dup	NP_001020114.1:p.Leu132ProfsTer?
NM_001024944.2:c.390_394dup	NP_001020115.1:p.Leu132ProfsTer?
NM_001024946.2:c.390_394dup	NP_001020117.1:p.Leu132ProfsTer?