Canonical Allele Identifier: CA841274917

Gene: ASL

Linked Data

• dbSNP Id: rs1403917458
• gnomAD v4: 7-66092772-CT-C
• MyVariant Identifiers: chr7:g.65557760del (hg19) ; chr7:g.66092773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092773del , CM000669.2:g.66092773del	GRCh38
NC_000007.13:g.65557760del , CM000669.1:g.65557760del	GRCh37
NC_000007.12:g.65195195del	NCBI36
NG_009288.1:g.21985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1256del MANE Select	ENSP00000307188.9:p.Leu419ArgfsTer6
ENST00000362000.10:c.1061del	ENSP00000354710.6:p.Leu354ArgfsTer6
ENST00000380839.9:c.1178del	ENSP00000370219.4:p.Leu393ArgfsTer6
ENST00000395331.4:c.1196del	ENSP00000378740.3:p.Leu399ArgfsTer6
ENST00000395332.8:c.1256del	ENSP00000378741.3:p.Leu419ArgfsTer6
ENST00000488343.2:c.148-131del	ENSP00000500864.1:n.148-131del
ENST00000672498.1:c.*659del	ENSP00000500227.1:n.*659del
ENST00000672586.1:n.2015del
ENST00000672676.1:n.2280del
ENST00000673149.1:n.1068del
ENST00000673350.1:n.3373del
ENST00000673518.1:c.1178del	ENSP00000499889.1:p.Leu393ArgfsTer6
ENST00000304874.13:c.1256del	ENSP00000307188.9:p.Leu419ArgfsTer6
ENST00000380839.8:c.1178del	ENSP00000370219.4:p.Leu393ArgfsTer6
ENST00000395331.3:c.1196del	ENSP00000378740.3:p.Leu399ArgfsTer6
ENST00000395332.7:c.1256del	ENSP00000378741.3:p.Leu419ArgfsTer6
ENST00000450043.2:c.563+110del	ENSP00000396527.2:n.563+110del
ENST00000464970.1:n.459del
ENST00000488343.1:n.148-131del
ENST00000493708.5:n.737del
NM_000048.3:c.1256del	NP_000039.2:p.Leu419ArgfsTer6
NM_001024943.1:c.1256del	NP_001020114.1:p.Leu419ArgfsTer6
NM_001024944.1:c.1196del	NP_001020115.1:p.Leu399ArgfsTer6
NM_001024946.1:c.1178del	NP_001020117.1:p.Leu393ArgfsTer6
NM_000048.4:c.1256del MANE Select	NP_000039.2:p.Leu419ArgfsTer6
NM_001024943.2:c.1256del	NP_001020114.1:p.Leu419ArgfsTer6
NM_001024944.2:c.1196del	NP_001020115.1:p.Leu399ArgfsTer6
NM_001024946.2:c.1178del	NP_001020117.1:p.Leu393ArgfsTer6