Canonical Allele Identifier: CA4277180

Gene: ASL

Linked Data

• dbSNP Id: rs759270998
• ExAC: 7:65554186 GGGGCCTCT / G
• gnomAD v2: 7-65554186-GGGGCCTCT-G
• gnomAD v3: 7-66089199-GGGGCCTCT-G
• gnomAD v4: 7-66089199-GGGGCCTCT-G
• MyVariant Identifiers: chr7:g.65554187_65554194del (hg19) ; chr7:g.66089200_66089207del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089204_66089211del , CM000669.2:g.66089204_66089211del	GRCh38
NC_000007.13:g.65554191_65554198del , CM000669.1:g.65554191_65554198del	GRCh37
NC_000007.12:g.65191626_65191633del	NCBI36
NG_009288.1:g.18416_18423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.918+29_918+36del MANE Select	ENSP00000307188.9:n.918+29_918+36del
ENST00000362000.10:c.723+29_723+36del	ENSP00000354710.6:n.723+29_723+36del
ENST00000380839.9:c.840+29_840+36del	ENSP00000370219.4:n.840+29_840+36del
ENST00000395331.4:c.918+29_918+36del	ENSP00000378740.3:n.918+29_918+36del
ENST00000395332.8:c.918+29_918+36del	ENSP00000378741.3:n.918+29_918+36del
ENST00000488343.2:c.87+29_87+36del	ENSP00000500864.1:n.87+29_87+36del
ENST00000671817.1:c.840+29_840+36del	ENSP00000500462.1:n.840+29_840+36del
ENST00000672498.1:c.*217+29_*217+36del	ENSP00000500227.1:n.*217+29_*217+36del
ENST00000672586.1:n.1677+29_1677+36del
ENST00000672676.1:n.1942+29_1942+36del
ENST00000673149.1:n.730+29_730+36del
ENST00000673350.1:n.3035+29_3035+36del
ENST00000673518.1:c.840+29_840+36del	ENSP00000499889.1:n.840+29_840+36del
ENST00000304874.13:c.918+29_918+36del	ENSP00000307188.9:n.918+29_918+36del
ENST00000380839.8:c.840+29_840+36del	ENSP00000370219.4:n.840+29_840+36del
ENST00000395331.3:c.918+29_918+36del	ENSP00000378740.3:n.918+29_918+36del
ENST00000395332.7:c.918+29_918+36del	ENSP00000378741.3:n.918+29_918+36del
ENST00000450043.2:c.231+29_231+36del	ENSP00000396527.2:n.231+29_231+36del
ENST00000488343.1:n.87+29_87+36del
ENST00000493708.5:n.328_335del
NM_000048.3:c.918+29_918+36del	NP_000039.2:n.918+29_918+36del
NM_001024943.1:c.918+29_918+36del	NP_001020114.1:n.918+29_918+36del
NM_001024944.1:c.918+29_918+36del	NP_001020115.1:n.918+29_918+36del
NM_001024946.1:c.840+29_840+36del	NP_001020117.1:n.840+29_840+36del
NM_000048.4:c.918+29_918+36del MANE Select	NP_000039.2:n.918+29_918+36del
NM_001024943.2:c.918+29_918+36del	NP_001020114.1:n.918+29_918+36del
NM_001024944.2:c.918+29_918+36del	NP_001020115.1:n.918+29_918+36del
NM_001024946.2:c.840+29_840+36del	NP_001020117.1:n.840+29_840+36del