Canonical Allele Identifier: CA1713923895
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66089354_66089383delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT , CM000669.2:g.66089354_66089383delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT GRCh38
NC_000007.13:g.65554341_65554370delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT , CM000669.1:g.65554341_65554370delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT GRCh37
NC_000007.12:g.65191776_65191805delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT NCBI36
NG_009288.1:g.18566_18595delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT MANE Select ENSP00000307188.9:n.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000362000.10:c.783+19_783+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000354710.6:n.783+19_783+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000380839.9:c.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000370219.4:n.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000395331.4:c.918+179_918+208delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000378740.3:n.918+179_918+208delinsCCTGGCTAGTACGTGCCAGT...
ENST00000395332.8:c.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000378741.3:n.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000488343.2:c.147+19_147+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000500864.1:n.147+19_147+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000671817.1:c.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000500462.1:n.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000672498.1:c.*277+19_*277+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000500227.1:n.*277+19_*277+48delinsCCTGGCTAGTACGTGCCAGT...
ENST00000672586.1:n.1737+19_1737+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT
ENST00000672676.1:n.2002+19_2002+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT
ENST00000673149.1:n.790+19_790+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT
ENST00000673350.1:n.3095+19_3095+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT
ENST00000673518.1:c.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000499889.1:n.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000304874.13:c.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000307188.9:n.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000380839.8:c.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000370219.4:n.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000395331.3:c.918+179_918+208delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000378740.3:n.918+179_918+208delinsCCTGGCTAGTACGTGCCAGT...
ENST00000395332.7:c.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000378741.3:n.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000450043.2:c.291+19_291+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT ENSP00000396527.2:n.291+19_291+48delinsCCTGGCTAGTACGTGCCAGTTC...
ENST00000464970.1:n.97+19_97+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT
ENST00000488343.1:n.147+19_147+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT
ENST00000493708.5:n.459+19_459+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT
NM_000048.3:c.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT NP_000039.2:n.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGG...
NM_001024943.1:c.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT NP_001020114.1:n.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCA...
NM_001024944.1:c.918+179_918+208delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT NP_001020115.1:n.918+179_918+208delinsCCTGGCTAGTACGTGCCAGTTCT...
NM_001024946.1:c.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT NP_001020117.1:n.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTCTCA...
NM_000048.4:c.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT MANE Select NP_000039.2:n.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGG...
NM_001024943.2:c.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT NP_001020114.1:n.978+19_978+48delinsCCTGGCTAGTACGTGCCAGTTCTCA...
NM_001024944.2:c.918+179_918+208delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT NP_001020115.1:n.918+179_918+208delinsCCTGGCTAGTACGTGCCAGTTCT...
NM_001024946.2:c.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTCTCAGGGCT NP_001020117.1:n.900+19_900+48delinsCCTGGCTAGTACGTGCCAGTTCTCA...