Canonical Allele Identifier: CA2776240959
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092478_66092479del , CM000669.2:g.66092478_66092479del GRCh38
NC_000007.13:g.65557465_65557466del , CM000669.1:g.65557465_65557466del GRCh37
NC_000007.12:g.65194900_65194901del NCBI36
NG_009288.1:g.21690_21691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.1144-79_1144-78del MANE Select ENSP00000307188.9:n.1144-79_1144-78del
ENST00000362000.10:c.949-79_949-78del ENSP00000354710.6:n.949-79_949-78del
ENST00000380839.9:c.1066-79_1066-78del ENSP00000370219.4:n.1066-79_1066-78del
ENST00000395331.4:c.1084-79_1084-78del ENSP00000378740.3:n.1084-79_1084-78del
ENST00000395332.8:c.1144-79_1144-78del ENSP00000378741.3:n.1144-79_1144-78del
ENST00000488343.2:c.148-426_148-425del ENSP00000500864.1:n.148-426_148-425del
ENST00000672498.1:c.*443-79_*443-78del ENSP00000500227.1:n.*443-79_*443-78del
ENST00000672586.1:n.1903-79_1903-78del
ENST00000672676.1:n.2168-79_2168-78del
ENST00000673149.1:n.956-79_956-78del
ENST00000673350.1:n.3261-79_3261-78del
ENST00000673518.1:c.1066-79_1066-78del ENSP00000499889.1:n.1066-79_1066-78del
ENST00000304874.13:c.1144-79_1144-78del ENSP00000307188.9:n.1144-79_1144-78del
ENST00000380839.8:c.1066-79_1066-78del ENSP00000370219.4:n.1066-79_1066-78del
ENST00000395331.3:c.1084-79_1084-78del ENSP00000378740.3:n.1084-79_1084-78del
ENST00000395332.7:c.1144-79_1144-78del ENSP00000378741.3:n.1144-79_1144-78del
ENST00000450043.2:c.457-79_457-78del ENSP00000396527.2:n.457-79_457-78del
ENST00000464970.1:n.347-79_347-78del
ENST00000488343.1:n.148-426_148-425del
ENST00000493708.5:n.625-79_625-78del
NM_000048.3:c.1144-79_1144-78del NP_000039.2:n.1144-79_1144-78del
NM_001024943.1:c.1144-79_1144-78del NP_001020114.1:n.1144-79_1144-78del
NM_001024944.1:c.1084-79_1084-78del NP_001020115.1:n.1084-79_1084-78del
NM_001024946.1:c.1066-79_1066-78del NP_001020117.1:n.1066-79_1066-78del
NM_000048.4:c.1144-79_1144-78del MANE Select NP_000039.2:n.1144-79_1144-78del
NM_001024943.2:c.1144-79_1144-78del NP_001020114.1:n.1144-79_1144-78del
NM_001024944.2:c.1084-79_1084-78del NP_001020115.1:n.1084-79_1084-78del
NM_001024946.2:c.1066-79_1066-78del NP_001020117.1:n.1066-79_1066-78del