Canonical Allele Identifier: CA2683086547

Gene: ASL

Linked Data

• gnomAD v4: 7-66087830-CTTTAGTCCTTCAGCCCAGCTTCTCTCCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087834_66087862del , CM000669.2:g.66087834_66087862del	GRCh38
NC_000007.13:g.65552821_65552849del , CM000669.1:g.65552821_65552849del	GRCh37
NC_000007.12:g.65190256_65190284del	NCBI36
NG_009288.1:g.17046_17074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.718+43_718+71del MANE Select	ENSP00000307188.9:n.718+43_718+71del
ENST00000362000.10:c.523+43_523+71del	ENSP00000354710.6:n.523+43_523+71del
ENST00000380839.9:c.640+43_640+71del	ENSP00000370219.4:n.640+43_640+71del
ENST00000395331.4:c.718+43_718+71del	ENSP00000378740.3:n.718+43_718+71del
ENST00000395332.8:c.718+43_718+71del	ENSP00000378741.3:n.718+43_718+71del
ENST00000671817.1:c.640+43_640+71del	ENSP00000500462.1:n.640+43_640+71del
ENST00000672498.1:c.*17+43_*17+71del	ENSP00000500227.1:n.*17+43_*17+71del
ENST00000672586.1:n.1477+43_1477+71del
ENST00000672676.1:n.1742+43_1742+71del
ENST00000673149.1:n.530+43_530+71del
ENST00000673350.1:n.1863_1891del
ENST00000673518.1:c.640+43_640+71del	ENSP00000499889.1:n.640+43_640+71del
ENST00000304874.13:c.718+43_718+71del	ENSP00000307188.9:n.718+43_718+71del
ENST00000362000.9:c.523+43_523+71del	ENSP00000354710.5:n.523+43_523+71del
ENST00000380839.8:c.640+43_640+71del	ENSP00000370219.4:n.640+43_640+71del
ENST00000395331.3:c.718+43_718+71del	ENSP00000378740.3:n.718+43_718+71del
ENST00000395332.7:c.718+43_718+71del	ENSP00000378741.3:n.718+43_718+71del
ENST00000450043.2:c.31+43_31+71del	ENSP00000396527.2:n.31+43_31+71del
ENST00000493708.5:n.99+43_99+71del
NM_000048.3:c.718+43_718+71del	NP_000039.2:n.718+43_718+71del
NM_001024943.1:c.718+43_718+71del	NP_001020114.1:n.718+43_718+71del
NM_001024944.1:c.718+43_718+71del	NP_001020115.1:n.718+43_718+71del
NM_001024946.1:c.640+43_640+71del	NP_001020117.1:n.640+43_640+71del
NM_000048.4:c.718+43_718+71del MANE Select	NP_000039.2:n.718+43_718+71del
NM_001024943.2:c.718+43_718+71del	NP_001020114.1:n.718+43_718+71del
NM_001024944.2:c.718+43_718+71del	NP_001020115.1:n.718+43_718+71del
NM_001024946.2:c.640+43_640+71del	NP_001020117.1:n.640+43_640+71del