Canonical Allele Identifier: CA1713923428
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66089186_66089187delinsCA , CM000669.2:g.66089186_66089187delinsCA GRCh38
NC_000007.13:g.65554173_65554174delinsCA , CM000669.1:g.65554173_65554174delinsCA GRCh37
NC_000007.12:g.65191608_65191609delinsCA NCBI36
NG_009288.1:g.18398_18399delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.918+11_918+12delinsCA MANE Select ENSP00000307188.9:n.918+11_918+12delinsCA
ENST00000362000.10:c.723+11_723+12delinsCA ENSP00000354710.6:n.723+11_723+12delinsCA
ENST00000380839.9:c.840+11_840+12delinsCA ENSP00000370219.4:n.840+11_840+12delinsCA
ENST00000395331.4:c.918+11_918+12delinsCA ENSP00000378740.3:n.918+11_918+12delinsCA
ENST00000395332.8:c.918+11_918+12delinsCA ENSP00000378741.3:n.918+11_918+12delinsCA
ENST00000488343.2:c.87+11_87+12delinsCA ENSP00000500864.1:n.87+11_87+12delinsCA
ENST00000671817.1:c.840+11_840+12delinsCA ENSP00000500462.1:n.840+11_840+12delinsCA
ENST00000672498.1:c.*217+11_*217+12delinsCA ENSP00000500227.1:n.*217+11_*217+12delinsCA
ENST00000672586.1:n.1677+11_1677+12delinsCA
ENST00000672676.1:n.1942+11_1942+12delinsCA
ENST00000673149.1:n.730+11_730+12delinsCA
ENST00000673350.1:n.3035+11_3035+12delinsCA
ENST00000673518.1:c.840+11_840+12delinsCA ENSP00000499889.1:n.840+11_840+12delinsCA
ENST00000304874.13:c.918+11_918+12delinsCA ENSP00000307188.9:n.918+11_918+12delinsCA
ENST00000380839.8:c.840+11_840+12delinsCA ENSP00000370219.4:n.840+11_840+12delinsCA
ENST00000395331.3:c.918+11_918+12delinsCA ENSP00000378740.3:n.918+11_918+12delinsCA
ENST00000395332.7:c.918+11_918+12delinsCA ENSP00000378741.3:n.918+11_918+12delinsCA
ENST00000450043.2:c.231+11_231+12delinsCA ENSP00000396527.2:n.231+11_231+12delinsCA
ENST00000488343.1:n.87+11_87+12delinsCA
ENST00000493708.5:n.310_311delinsCA
NM_000048.3:c.918+11_918+12delinsCA NP_000039.2:n.918+11_918+12delinsCA
NM_001024943.1:c.918+11_918+12delinsCA NP_001020114.1:n.918+11_918+12delinsCA
NM_001024944.1:c.918+11_918+12delinsCA NP_001020115.1:n.918+11_918+12delinsCA
NM_001024946.1:c.840+11_840+12delinsCA NP_001020117.1:n.840+11_840+12delinsCA
NM_000048.4:c.918+11_918+12delinsCA MANE Select NP_000039.2:n.918+11_918+12delinsCA
NM_001024943.2:c.918+11_918+12delinsCA NP_001020114.1:n.918+11_918+12delinsCA
NM_001024944.2:c.918+11_918+12delinsCA NP_001020115.1:n.918+11_918+12delinsCA
NM_001024946.2:c.840+11_840+12delinsCA NP_001020117.1:n.840+11_840+12delinsCA