Canonical Allele Identifier: CA159931984

Gene: ASL

Linked Data

• dbSNP Id: rs369464777
• gnomAD v2: 7-65552509-GTCA-G
• gnomAD v3: 7-66087522-GTCA-G
• gnomAD v4: 7-66087522-GTCA-G
• MyVariant Identifiers: chr7:g.65552510_65552512del (hg19) ; chr7:g.66087523_66087525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087526_66087528del , CM000669.2:g.66087526_66087528del	GRCh38
NC_000007.13:g.65552513_65552515del , CM000669.1:g.65552513_65552515del	GRCh37
NC_000007.12:g.65189948_65189950del	NCBI36
NG_009288.1:g.16738_16740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.655+140_655+142del MANE Select	ENSP00000307188.9:n.655+140_655+142del
ENST00000362000.10:c.460+140_460+142del	ENSP00000354710.6:n.460+140_460+142del
ENST00000380839.9:c.577+140_577+142del	ENSP00000370219.4:n.577+140_577+142del
ENST00000395331.4:c.655+140_655+142del	ENSP00000378740.3:n.655+140_655+142del
ENST00000395332.8:c.655+140_655+142del	ENSP00000378741.3:n.655+140_655+142del
ENST00000671817.1:c.577+140_577+142del	ENSP00000500462.1:n.577+140_577+142del
ENST00000672498.1:c.447-203_447-201del	ENSP00000500227.1:n.447-203_447-201del
ENST00000672586.1:n.1212_1214del
ENST00000672676.1:n.1477_1479del
ENST00000673149.1:n.467+140_467+142del
ENST00000673350.1:n.1555_1557del
ENST00000673518.1:c.577+140_577+142del	ENSP00000499889.1:n.577+140_577+142del
ENST00000673594.1:n.644_646del
ENST00000304874.13:c.655+140_655+142del	ENSP00000307188.9:n.655+140_655+142del
ENST00000362000.9:c.460+140_460+142del	ENSP00000354710.5:n.460+140_460+142del
ENST00000380839.8:c.577+140_577+142del	ENSP00000370219.4:n.577+140_577+142del
ENST00000395331.3:c.655+140_655+142del	ENSP00000378740.3:n.655+140_655+142del
ENST00000395332.7:c.655+140_655+142del	ENSP00000378741.3:n.655+140_655+142del
NM_000048.3:c.655+140_655+142del	NP_000039.2:n.655+140_655+142del
NM_001024943.1:c.655+140_655+142del	NP_001020114.1:n.655+140_655+142del
NM_001024944.1:c.655+140_655+142del	NP_001020115.1:n.655+140_655+142del
NM_001024946.1:c.577+140_577+142del	NP_001020117.1:n.577+140_577+142del
NM_000048.4:c.655+140_655+142del MANE Select	NP_000039.2:n.655+140_655+142del
NM_001024943.2:c.655+140_655+142del	NP_001020114.1:n.655+140_655+142del
NM_001024944.2:c.655+140_655+142del	NP_001020115.1:n.655+140_655+142del
NM_001024946.2:c.577+140_577+142del	NP_001020117.1:n.577+140_577+142del