Canonical Allele Identifier: CA4276845

Gene: ASL

Linked Data

• dbSNP Id: rs757340849
• ExAC: 7:65546997 GCCCAAGCCCCA / G
• gnomAD v2: 7-65546997-GCCCAAGCCCCA-G
• gnomAD v3: 7-66082010-GCCCAAGCCCCA-G
• gnomAD v4: 7-66082010-GCCCAAGCCCCA-G
• MyVariant Identifiers: chr7:g.65546998_65547008del (hg19) ; chr7:g.66082011_66082021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082017_66082027del , CM000669.2:g.66082017_66082027del	GRCh38
NC_000007.13:g.65547004_65547014del , CM000669.1:g.65547004_65547014del	GRCh37
NC_000007.12:g.65184439_65184449del	NCBI36
NG_009288.1:g.11229_11239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.207+20_207+30del MANE Select	ENSP00000307188.9:n.207+20_207+30del
ENST00000362000.10:c.13-351_13-341del	ENSP00000354710.6:n.13-351_13-341del
ENST00000380839.9:c.207+20_207+30del	ENSP00000370219.4:n.207+20_207+30del
ENST00000395331.4:c.207+20_207+30del	ENSP00000378740.3:n.207+20_207+30del
ENST00000395332.8:c.207+20_207+30del	ENSP00000378741.3:n.207+20_207+30del
ENST00000671817.1:c.207+20_207+30del	ENSP00000500462.1:n.207+20_207+30del
ENST00000672498.1:c.207+20_207+30del	ENSP00000500227.1:n.207+20_207+30del
ENST00000672586.1:n.113-351_113-341del
ENST00000672676.1:n.377+20_377+30del
ENST00000673350.1:n.455+20_455+30del
ENST00000673518.1:c.207+20_207+30del	ENSP00000499889.1:n.207+20_207+30del
ENST00000673594.1:n.56+20_56+30del
ENST00000304874.13:c.207+20_207+30del	ENSP00000307188.9:n.207+20_207+30del
ENST00000362000.9:c.13-351_13-341del	ENSP00000354710.5:n.13-351_13-341del
ENST00000380839.8:c.207+20_207+30del	ENSP00000370219.4:n.207+20_207+30del
ENST00000395331.3:c.207+20_207+30del	ENSP00000378740.3:n.207+20_207+30del
ENST00000395332.7:c.207+20_207+30del	ENSP00000378741.3:n.207+20_207+30del
ENST00000487982.5:n.273+20_273+30del
ENST00000496336.1:n.448+20_448+30del
NM_000048.3:c.207+20_207+30del	NP_000039.2:n.207+20_207+30del
NM_001024943.1:c.207+20_207+30del	NP_001020114.1:n.207+20_207+30del
NM_001024944.1:c.207+20_207+30del	NP_001020115.1:n.207+20_207+30del
NM_001024946.1:c.207+20_207+30del	NP_001020117.1:n.207+20_207+30del
NM_000048.4:c.207+20_207+30del MANE Select	NP_000039.2:n.207+20_207+30del
NM_001024943.2:c.207+20_207+30del	NP_001020114.1:n.207+20_207+30del
NM_001024944.2:c.207+20_207+30del	NP_001020115.1:n.207+20_207+30del
NM_001024946.2:c.207+20_207+30del	NP_001020117.1:n.207+20_207+30del