Canonical Allele Identifier: CA312349

Gene: ASL

Linked Data

• ClinVar Variation Id: 203629
• ClinVar RCV Id: RCV000185780 ; RCV000668476 ; RCV001375026
• dbSNP Id: rs796051933
• ExAC: 7:65554662 GGCGTCATCTCTAC / G
• gnomAD v2: 7-65554662-GGCGTCATCTCTAC-G
• gnomAD v3: 7-66089675-GGCGTCATCTCTAC-G
• gnomAD v4: 7-66089675-GGCGTCATCTCTAC-G
• MyVariant Identifiers: chr7:g.65554665_65554677del (hg19) ; chr7:g.65554663_65554675del (hg19) ; chr7:g.65554665_65554677delGTCATCTCTACGC (hg19) ; chr7:g.66089678_66089690del (hg38) ; chr7:g.66089676_66089688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089678_66089690del , CM000669.2:g.66089678_66089690del	GRCh38
NC_000007.13:g.65554665_65554677del , CM000669.1:g.65554665_65554677del	GRCh37
NC_000007.12:g.65192100_65192112del	NCBI36
NG_009288.1:g.18890_18902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1045_1057del MANE Select	ENSP00000307188.9:p.Val349CysfsTer?
ENST00000362000.10:c.850_862del	ENSP00000354710.6:p.Val284CysfsTer?
ENST00000380839.9:c.967_979del	ENSP00000370219.4:p.Val323CysfsTer?
ENST00000395331.4:c.985_997del	ENSP00000378740.3:p.Val329CysfsTer?
ENST00000395332.8:c.1045_1057del	ENSP00000378741.3:p.Val349CysfsTer?
ENST00000488343.2:c.147+343_147+355del	ENSP00000500864.1:n.147+343_147+355del
ENST00000671817.1:c.967_979del	ENSP00000500462.1:p.Val323CysfsTer?
ENST00000672498.1:c.*344_*356del	ENSP00000500227.1:n.*344_*356del
ENST00000672586.1:n.1804_1816del
ENST00000672676.1:n.2069_2081del
ENST00000673149.1:n.857_869del
ENST00000673350.1:n.3162_3174del
ENST00000673518.1:c.967_979del	ENSP00000499889.1:p.Val323CysfsTer?
ENST00000304874.13:c.1045_1057del	ENSP00000307188.9:p.Val349CysfsTer?
ENST00000380839.8:c.967_979del	ENSP00000370219.4:p.Val323CysfsTer?
ENST00000395331.3:c.985_997del	ENSP00000378740.3:p.Val329CysfsTer?
ENST00000395332.7:c.1045_1057del	ENSP00000378741.3:p.Val349CysfsTer?
ENST00000450043.2:c.358_370del	ENSP00000396527.2:p.Val120CysfsTer?
ENST00000464970.1:n.164_176del
ENST00000488343.1:n.147+343_147+355del
ENST00000493708.5:n.526_538del
NM_000048.3:c.1045_1057del	NP_000039.2:p.Val349CysfsTer?
NM_001024943.1:c.1045_1057del	NP_001020114.1:p.Val349CysfsTer?
NM_001024944.1:c.985_997del	NP_001020115.1:p.Val329CysfsTer?
NM_001024946.1:c.967_979del	NP_001020117.1:p.Val323CysfsTer?
NM_000048.4:c.1045_1057del MANE Select	NP_000039.2:p.Val349CysfsTer?
NM_001024943.2:c.1045_1057del	NP_001020114.1:p.Val349CysfsTer?
NM_001024944.2:c.985_997del	NP_001020115.1:p.Val329CysfsTer?
NM_001024946.2:c.967_979del	NP_001020117.1:p.Val323CysfsTer?