Canonical Allele Identifier: CA2683085528

Gene: ASL

Linked Data

• gnomAD v4: 7-66087215-CCAGGACTTGGTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087217_66087230del , CM000669.2:g.66087217_66087230del	GRCh38
NC_000007.13:g.65552204_65552217del , CM000669.1:g.65552204_65552217del	GRCh37
NC_000007.12:g.65189639_65189652del	NCBI36
NG_009288.1:g.16429_16442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.603-117_603-104del MANE Select	ENSP00000307188.9:n.603-117_603-104del
ENST00000362000.10:c.408-117_408-104del	ENSP00000354710.6:n.408-117_408-104del
ENST00000380839.9:c.525-117_525-104del	ENSP00000370219.4:n.525-117_525-104del
ENST00000395331.4:c.603-117_603-104del	ENSP00000378740.3:n.603-117_603-104del
ENST00000395332.8:c.603-117_603-104del	ENSP00000378741.3:n.603-117_603-104del
ENST00000671817.1:c.525-117_525-104del	ENSP00000500462.1:n.525-117_525-104del
ENST00000672498.1:c.447-512_447-499del	ENSP00000500227.1:n.447-512_447-499del
ENST00000672586.1:n.903_916del
ENST00000672676.1:n.1168_1181del
ENST00000673149.1:n.415-117_415-104del
ENST00000673350.1:n.1246_1259del
ENST00000673518.1:c.525-117_525-104del	ENSP00000499889.1:n.525-117_525-104del
ENST00000673594.1:n.452-117_452-104del
ENST00000304874.13:c.603-117_603-104del	ENSP00000307188.9:n.603-117_603-104del
ENST00000362000.9:c.408-117_408-104del	ENSP00000354710.5:n.408-117_408-104del
ENST00000380839.8:c.525-117_525-104del	ENSP00000370219.4:n.525-117_525-104del
ENST00000395331.3:c.603-117_603-104del	ENSP00000378740.3:n.603-117_603-104del
ENST00000395332.7:c.603-117_603-104del	ENSP00000378741.3:n.603-117_603-104del
NM_000048.3:c.603-117_603-104del	NP_000039.2:n.603-117_603-104del
NM_001024943.1:c.603-117_603-104del	NP_001020114.1:n.603-117_603-104del
NM_001024944.1:c.603-117_603-104del	NP_001020115.1:n.603-117_603-104del
NM_001024946.1:c.525-117_525-104del	NP_001020117.1:n.525-117_525-104del
NM_000048.4:c.603-117_603-104del MANE Select	NP_000039.2:n.603-117_603-104del
NM_001024943.2:c.603-117_603-104del	NP_001020114.1:n.603-117_603-104del
NM_001024944.2:c.603-117_603-104del	NP_001020115.1:n.603-117_603-104del
NM_001024946.2:c.525-117_525-104del	NP_001020117.1:n.525-117_525-104del