Canonical Allele Identifier: CA4277166

Gene: ASL

Linked Data

• dbSNP Id: rs746531359
• ExAC: 7:65554148 CGT / C
• gnomAD v2: 7-65554148-CGT-C
• MyVariant Identifiers: chr7:g.65554149_65554150del (hg19) ; chr7:g.66089162_66089163del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089166_66089167del , CM000669.2:g.66089166_66089167del	GRCh38
NC_000007.13:g.65554153_65554154del , CM000669.1:g.65554153_65554154del	GRCh37
NC_000007.12:g.65191588_65191589del	NCBI36
NG_009288.1:g.18378_18379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.909_910del MANE Select	ENSP00000307188.9:p.Phe304TrpfsTer?
ENST00000362000.10:c.714_715del	ENSP00000354710.6:p.Phe239TrpfsTer?
ENST00000380839.9:c.831_832del	ENSP00000370219.4:p.Phe278TrpfsTer?
ENST00000395331.4:c.909_910del	ENSP00000378740.3:p.Phe304TrpfsTer10
ENST00000395332.8:c.909_910del	ENSP00000378741.3:p.Phe304TrpfsTer?
ENST00000488343.2:c.78_79del	ENSP00000500864.1:p.Phe27TrpfsTer?
ENST00000671817.1:c.831_832del	ENSP00000500462.1:p.Phe278TrpfsTer?
ENST00000672498.1:c.*208_*209del	ENSP00000500227.1:n.*208_*209del
ENST00000672586.1:n.1668_1669del
ENST00000672676.1:n.1933_1934del
ENST00000673149.1:n.721_722del
ENST00000673350.1:n.3026_3027del
ENST00000673518.1:c.831_832del	ENSP00000499889.1:p.Phe278TrpfsTer?
ENST00000304874.13:c.909_910del	ENSP00000307188.9:p.Phe304TrpfsTer?
ENST00000362000.9:c.714_715del	ENSP00000354710.5:p.Phe239TrpfsTer?
ENST00000380839.8:c.831_832del	ENSP00000370219.4:p.Phe278TrpfsTer?
ENST00000395331.3:c.909_910del	ENSP00000378740.3:p.Phe304TrpfsTer10
ENST00000395332.7:c.909_910del	ENSP00000378741.3:p.Phe304TrpfsTer?
ENST00000450043.2:c.222_223del	ENSP00000396527.2:p.Phe75TrpfsTer?
ENST00000488343.1:n.78_79del
ENST00000493708.5:n.290_291del
NM_000048.3:c.909_910del	NP_000039.2:p.Phe304TrpfsTer?
NM_001024943.1:c.909_910del	NP_001020114.1:p.Phe304TrpfsTer?
NM_001024944.1:c.909_910del	NP_001020115.1:p.Phe304TrpfsTer10
NM_001024946.1:c.831_832del	NP_001020117.1:p.Phe278TrpfsTer?
NM_000048.4:c.909_910del MANE Select	NP_000039.2:p.Phe304TrpfsTer?
NM_001024943.2:c.909_910del	NP_001020114.1:p.Phe304TrpfsTer?
NM_001024944.2:c.909_910del	NP_001020115.1:p.Phe304TrpfsTer10
NM_001024946.2:c.831_832del	NP_001020117.1:p.Phe278TrpfsTer?