Canonical Allele Identifier: CA455449964

Gene: ASL

Linked Data

• gnomAD v4: 7-66082410-AATG-A
• MyVariant Identifiers: chr7:g.65547402_65547404delTGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082415_66082417del , CM000669.2:g.66082415_66082417del	GRCh38
NC_000007.13:g.65547402_65547404del , CM000669.1:g.65547402_65547404del	GRCh37
NC_000007.12:g.65184837_65184839del	NCBI36
NG_009288.1:g.11627_11629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.255_257del MANE Select	ENSP00000307188.9:p.Asp85del
ENST00000362000.10:c.60_62del	ENSP00000354710.6:p.Asp20del
ENST00000380839.9:c.255_257del	ENSP00000370219.4:p.Asp85del
ENST00000395331.4:c.255_257del	ENSP00000378740.3:p.Asp85del
ENST00000395332.8:c.255_257del	ENSP00000378741.3:p.Asp85del
ENST00000671817.1:c.255_257del	ENSP00000500462.1:p.Asp85del
ENST00000672498.1:c.255_257del	ENSP00000500227.1:p.Asp85del
ENST00000672586.1:n.160_162del
ENST00000672676.1:n.425_427del
ENST00000673350.1:n.503_505del
ENST00000673518.1:c.255_257del	ENSP00000499889.1:p.Asp85del
ENST00000673594.1:n.104_106del
ENST00000304874.13:c.255_257del	ENSP00000307188.9:p.Asp85del
ENST00000362000.9:c.60_62del	ENSP00000354710.5:p.Asp20del
ENST00000380839.8:c.255_257del	ENSP00000370219.4:p.Asp85del
ENST00000395331.3:c.255_257del	ENSP00000378740.3:p.Asp85del
ENST00000395332.7:c.255_257del	ENSP00000378741.3:p.Asp85del
ENST00000487982.5:n.321_323del
ENST00000496336.1:n.496_498del
NM_000048.3:c.255_257del	NP_000039.2:p.Asp85del
NM_001024943.1:c.255_257del	NP_001020114.1:p.Asp85del
NM_001024944.1:c.255_257del	NP_001020115.1:p.Asp85del
NM_001024946.1:c.255_257del	NP_001020117.1:p.Asp85del
NM_000048.4:c.255_257del MANE Select	NP_000039.2:p.Asp85del
NM_001024943.2:c.255_257del	NP_001020114.1:p.Asp85del
NM_001024944.2:c.255_257del	NP_001020115.1:p.Asp85del
NM_001024946.2:c.255_257del	NP_001020117.1:p.Asp85del