Canonical Allele Identifier: CA2714712447

Gene: ASL

Linked Data

• dbSNP Id: rs2115729445

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087281_66087284del , CM000669.2:g.66087281_66087284del	GRCh38
NC_000007.13:g.65552268_65552271del , CM000669.1:g.65552268_65552271del	GRCh37
NC_000007.12:g.65189703_65189706del	NCBI36
NG_009288.1:g.16493_16496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.603-53_603-50del MANE Select	ENSP00000307188.9:n.603-53_603-50del
ENST00000362000.10:c.408-53_408-50del	ENSP00000354710.6:n.408-53_408-50del
ENST00000380839.9:c.525-53_525-50del	ENSP00000370219.4:n.525-53_525-50del
ENST00000395331.4:c.603-53_603-50del	ENSP00000378740.3:n.603-53_603-50del
ENST00000395332.8:c.603-53_603-50del	ENSP00000378741.3:n.603-53_603-50del
ENST00000671817.1:c.525-53_525-50del	ENSP00000500462.1:n.525-53_525-50del
ENST00000672498.1:c.447-448_447-445del	ENSP00000500227.1:n.447-448_447-445del
ENST00000672586.1:n.967_970del
ENST00000672676.1:n.1232_1235del
ENST00000673149.1:n.415-53_415-50del
ENST00000673350.1:n.1310_1313del
ENST00000673518.1:c.525-53_525-50del	ENSP00000499889.1:n.525-53_525-50del
ENST00000673594.1:n.452-53_452-50del
ENST00000304874.13:c.603-53_603-50del	ENSP00000307188.9:n.603-53_603-50del
ENST00000362000.9:c.408-53_408-50del	ENSP00000354710.5:n.408-53_408-50del
ENST00000380839.8:c.525-53_525-50del	ENSP00000370219.4:n.525-53_525-50del
ENST00000395331.3:c.603-53_603-50del	ENSP00000378740.3:n.603-53_603-50del
ENST00000395332.7:c.603-53_603-50del	ENSP00000378741.3:n.603-53_603-50del
NM_000048.3:c.603-53_603-50del	NP_000039.2:n.603-53_603-50del
NM_001024943.1:c.603-53_603-50del	NP_001020114.1:n.603-53_603-50del
NM_001024944.1:c.603-53_603-50del	NP_001020115.1:n.603-53_603-50del
NM_001024946.1:c.525-53_525-50del	NP_001020117.1:n.525-53_525-50del
NM_000048.4:c.603-53_603-50del MANE Select	NP_000039.2:n.603-53_603-50del
NM_001024943.2:c.603-53_603-50del	NP_001020114.1:n.603-53_603-50del
NM_001024944.2:c.603-53_603-50del	NP_001020115.1:n.603-53_603-50del
NM_001024946.2:c.525-53_525-50del	NP_001020117.1:n.525-53_525-50del