Canonical Allele Identifier: CA159931342

Gene: ASL

Linked Data

• ClinVar Variation Id: 1219323
• ClinVar RCV Id: RCV001588412
• dbSNP Id: rs60055215
• gnomAD v2: 7-65552230-CGTGTGT-C
• gnomAD v3: 7-66087243-CGTGTGT-C
• gnomAD v4: 7-66087243-CGTGTGT-C
• MyVariant Identifiers: chr7:g.65552233_65552238del (hg19) ; chr7:g.65552231_65552236del (hg19) ; chr7:g.66087246_66087251del (hg38) ; chr7:g.66087244_66087249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087278_66087283del , CM000669.2:g.66087278_66087283del	GRCh38
NC_000007.13:g.65552265_65552270del , CM000669.1:g.65552265_65552270del	GRCh37
NC_000007.12:g.65189700_65189705del	NCBI36
NG_009288.1:g.16490_16495del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.603-56_603-51del MANE Select	ENSP00000307188.9:n.603-56_603-51del
ENST00000362000.10:c.408-56_408-51del	ENSP00000354710.6:n.408-56_408-51del
ENST00000380839.9:c.525-56_525-51del	ENSP00000370219.4:n.525-56_525-51del
ENST00000395331.4:c.603-56_603-51del	ENSP00000378740.3:n.603-56_603-51del
ENST00000395332.8:c.603-56_603-51del	ENSP00000378741.3:n.603-56_603-51del
ENST00000671817.1:c.525-56_525-51del	ENSP00000500462.1:n.525-56_525-51del
ENST00000672498.1:c.447-451_447-446del	ENSP00000500227.1:n.447-451_447-446del
ENST00000672586.1:n.964_969del
ENST00000672676.1:n.1229_1234del
ENST00000673149.1:n.415-56_415-51del
ENST00000673350.1:n.1307_1312del
ENST00000673518.1:c.525-56_525-51del	ENSP00000499889.1:n.525-56_525-51del
ENST00000673594.1:n.452-56_452-51del
ENST00000304874.13:c.603-56_603-51del	ENSP00000307188.9:n.603-56_603-51del
ENST00000362000.9:c.408-56_408-51del	ENSP00000354710.5:n.408-56_408-51del
ENST00000380839.8:c.525-56_525-51del	ENSP00000370219.4:n.525-56_525-51del
ENST00000395331.3:c.603-56_603-51del	ENSP00000378740.3:n.603-56_603-51del
ENST00000395332.7:c.603-56_603-51del	ENSP00000378741.3:n.603-56_603-51del
NM_000048.3:c.603-56_603-51del	NP_000039.2:n.603-56_603-51del
NM_001024943.1:c.603-56_603-51del	NP_001020114.1:n.603-56_603-51del
NM_001024944.1:c.603-56_603-51del	NP_001020115.1:n.603-56_603-51del
NM_001024946.1:c.525-56_525-51del	NP_001020117.1:n.525-56_525-51del
NM_000048.4:c.603-56_603-51del MANE Select	NP_000039.2:n.603-56_603-51del
NM_001024943.2:c.603-56_603-51del	NP_001020114.1:n.603-56_603-51del
NM_001024944.2:c.603-56_603-51del	NP_001020115.1:n.603-56_603-51del
NM_001024946.2:c.525-56_525-51del	NP_001020117.1:n.525-56_525-51del