Canonical Allele Identifier: CA4277176

Gene: ASL

Linked Data

• dbSNP Id: rs776178127
• ExAC: 7:65554181 GGGGCGGGGCCTCT / G
• gnomAD v2: 7-65554181-GGGGCGGGGCCTCT-G
• gnomAD v3: 7-66089194-GGGGCGGGGCCTCT-G
• gnomAD v4: 7-66089194-GGGGCGGGGCCTCT-G
• MyVariant Identifiers: chr7:g.65554182_65554194del (hg19) ; chr7:g.66089195_66089207del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089199_66089211del , CM000669.2:g.66089199_66089211del	GRCh38
NC_000007.13:g.65554186_65554198del , CM000669.1:g.65554186_65554198del	GRCh37
NC_000007.12:g.65191621_65191633del	NCBI36
NG_009288.1:g.18411_18423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.918+24_918+36del MANE Select	ENSP00000307188.9:n.918+24_918+36del
ENST00000362000.10:c.723+24_723+36del	ENSP00000354710.6:n.723+24_723+36del
ENST00000380839.9:c.840+24_840+36del	ENSP00000370219.4:n.840+24_840+36del
ENST00000395331.4:c.918+24_918+36del	ENSP00000378740.3:n.918+24_918+36del
ENST00000395332.8:c.918+24_918+36del	ENSP00000378741.3:n.918+24_918+36del
ENST00000488343.2:c.87+24_87+36del	ENSP00000500864.1:n.87+24_87+36del
ENST00000671817.1:c.840+24_840+36del	ENSP00000500462.1:n.840+24_840+36del
ENST00000672498.1:c.*217+24_*217+36del	ENSP00000500227.1:n.*217+24_*217+36del
ENST00000672586.1:n.1677+24_1677+36del
ENST00000672676.1:n.1942+24_1942+36del
ENST00000673149.1:n.730+24_730+36del
ENST00000673350.1:n.3035+24_3035+36del
ENST00000673518.1:c.840+24_840+36del	ENSP00000499889.1:n.840+24_840+36del
ENST00000304874.13:c.918+24_918+36del	ENSP00000307188.9:n.918+24_918+36del
ENST00000380839.8:c.840+24_840+36del	ENSP00000370219.4:n.840+24_840+36del
ENST00000395331.3:c.918+24_918+36del	ENSP00000378740.3:n.918+24_918+36del
ENST00000395332.7:c.918+24_918+36del	ENSP00000378741.3:n.918+24_918+36del
ENST00000450043.2:c.231+24_231+36del	ENSP00000396527.2:n.231+24_231+36del
ENST00000488343.1:n.87+24_87+36del
ENST00000493708.5:n.323_335del
NM_000048.3:c.918+24_918+36del	NP_000039.2:n.918+24_918+36del
NM_001024943.1:c.918+24_918+36del	NP_001020114.1:n.918+24_918+36del
NM_001024944.1:c.918+24_918+36del	NP_001020115.1:n.918+24_918+36del
NM_001024946.1:c.840+24_840+36del	NP_001020117.1:n.840+24_840+36del
NM_000048.4:c.918+24_918+36del MANE Select	NP_000039.2:n.918+24_918+36del
NM_001024943.2:c.918+24_918+36del	NP_001020114.1:n.918+24_918+36del
NM_001024944.2:c.918+24_918+36del	NP_001020115.1:n.918+24_918+36del
NM_001024946.2:c.840+24_840+36del	NP_001020117.1:n.840+24_840+36del