Canonical Allele Identifier: CA841269014

Gene: ASL

Linked Data

• dbSNP Id: rs1247689261
• gnomAD v3: 7-66087230-CTGTGTGTGCGTTCG-C
• gnomAD v4: 7-66087230-CTGTGTGTGCGTTCG-C
• MyVariant Identifiers: chr7:g.65552218_65552231del (hg19) ; chr7:g.66087231_66087244del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087239_66087252del , CM000669.2:g.66087239_66087252del	GRCh38
NC_000007.13:g.65552226_65552239del , CM000669.1:g.65552226_65552239del	GRCh37
NC_000007.12:g.65189661_65189674del	NCBI36
NG_009288.1:g.16451_16464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.603-95_603-82del MANE Select	ENSP00000307188.9:n.603-95_603-82del
ENST00000362000.10:c.408-95_408-82del	ENSP00000354710.6:n.408-95_408-82del
ENST00000380839.9:c.525-95_525-82del	ENSP00000370219.4:n.525-95_525-82del
ENST00000395331.4:c.603-95_603-82del	ENSP00000378740.3:n.603-95_603-82del
ENST00000395332.8:c.603-95_603-82del	ENSP00000378741.3:n.603-95_603-82del
ENST00000671817.1:c.525-95_525-82del	ENSP00000500462.1:n.525-95_525-82del
ENST00000672498.1:c.447-490_447-477del	ENSP00000500227.1:n.447-490_447-477del
ENST00000672586.1:n.925_938del
ENST00000672676.1:n.1190_1203del
ENST00000673149.1:n.415-95_415-82del
ENST00000673350.1:n.1268_1281del
ENST00000673518.1:c.525-95_525-82del	ENSP00000499889.1:n.525-95_525-82del
ENST00000673594.1:n.452-95_452-82del
ENST00000304874.13:c.603-95_603-82del	ENSP00000307188.9:n.603-95_603-82del
ENST00000362000.9:c.408-95_408-82del	ENSP00000354710.5:n.408-95_408-82del
ENST00000380839.8:c.525-95_525-82del	ENSP00000370219.4:n.525-95_525-82del
ENST00000395331.3:c.603-95_603-82del	ENSP00000378740.3:n.603-95_603-82del
ENST00000395332.7:c.603-95_603-82del	ENSP00000378741.3:n.603-95_603-82del
NM_000048.3:c.603-95_603-82del	NP_000039.2:n.603-95_603-82del
NM_001024943.1:c.603-95_603-82del	NP_001020114.1:n.603-95_603-82del
NM_001024944.1:c.603-95_603-82del	NP_001020115.1:n.603-95_603-82del
NM_001024946.1:c.525-95_525-82del	NP_001020117.1:n.525-95_525-82del
NM_000048.4:c.603-95_603-82del MANE Select	NP_000039.2:n.603-95_603-82del
NM_001024943.2:c.603-95_603-82del	NP_001020114.1:n.603-95_603-82del
NM_001024944.2:c.603-95_603-82del	NP_001020115.1:n.603-95_603-82del
NM_001024946.2:c.525-95_525-82del	NP_001020117.1:n.525-95_525-82del