Canonical Allele Identifier: CA1713928715

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092694_66092698delinsCCTAG , CM000669.2:g.66092694_66092698delinsCCTAG	GRCh38
NC_000007.13:g.65557681_65557685delinsCCTAG , CM000669.1:g.65557681_65557685delinsCCTAG	GRCh37
NC_000007.12:g.65195116_65195120delinsCCTAG	NCBI36
NG_009288.1:g.21906_21910delinsCCTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1250+31_1250+35delinsCCTAG MANE Select	ENSP00000307188.9:n.1250+31_1250+35delinsCCTAG
ENST00000362000.10:c.1055+31_1055+35delinsCCTAG	ENSP00000354710.6:n.1055+31_1055+35delinsCCTAG
ENST00000380839.9:c.1172+31_1172+35delinsCCTAG	ENSP00000370219.4:n.1172+31_1172+35delinsCCTAG
ENST00000395331.4:c.1190+31_1190+35delinsCCTAG	ENSP00000378740.3:n.1190+31_1190+35delinsCCTAG
ENST00000395332.8:c.1250+31_1250+35delinsCCTAG	ENSP00000378741.3:n.1250+31_1250+35delinsCCTAG
ENST00000488343.2:c.148-210_148-206delinsCCTAG	ENSP00000500864.1:n.148-210_148-206delinsCCTAG
ENST00000672498.1:c.*580_*584delinsCCTAG	ENSP00000500227.1:n.*580_*584delinsCCTAG
ENST00000672586.1:n.2009+31_2009+35delinsCCTAG
ENST00000672676.1:n.2274+31_2274+35delinsCCTAG
ENST00000673149.1:n.1062+31_1062+35delinsCCTAG
ENST00000673350.1:n.3367+31_3367+35delinsCCTAG
ENST00000673518.1:c.1172+31_1172+35delinsCCTAG	ENSP00000499889.1:n.1172+31_1172+35delinsCCTAG
ENST00000304874.13:c.1250+31_1250+35delinsCCTAG	ENSP00000307188.9:n.1250+31_1250+35delinsCCTAG
ENST00000380839.8:c.1172+31_1172+35delinsCCTAG	ENSP00000370219.4:n.1172+31_1172+35delinsCCTAG
ENST00000395331.3:c.1190+31_1190+35delinsCCTAG	ENSP00000378740.3:n.1190+31_1190+35delinsCCTAG
ENST00000395332.7:c.1250+31_1250+35delinsCCTAG	ENSP00000378741.3:n.1250+31_1250+35delinsCCTAG
ENST00000450043.2:c.563+31_563+35delinsCCTAG	ENSP00000396527.2:n.563+31_563+35delinsCCTAG
ENST00000464970.1:n.453+31_453+35delinsCCTAG
ENST00000488343.1:n.148-210_148-206delinsCCTAG
ENST00000493708.5:n.731+31_731+35delinsCCTAG
NM_000048.3:c.1250+31_1250+35delinsCCTAG	NP_000039.2:n.1250+31_1250+35delinsCCTAG
NM_001024943.1:c.1250+31_1250+35delinsCCTAG	NP_001020114.1:n.1250+31_1250+35delinsCCTAG
NM_001024944.1:c.1190+31_1190+35delinsCCTAG	NP_001020115.1:n.1190+31_1190+35delinsCCTAG
NM_001024946.1:c.1172+31_1172+35delinsCCTAG	NP_001020117.1:n.1172+31_1172+35delinsCCTAG
NM_000048.4:c.1250+31_1250+35delinsCCTAG MANE Select	NP_000039.2:n.1250+31_1250+35delinsCCTAG
NM_001024943.2:c.1250+31_1250+35delinsCCTAG	NP_001020114.1:n.1250+31_1250+35delinsCCTAG
NM_001024944.2:c.1190+31_1190+35delinsCCTAG	NP_001020115.1:n.1190+31_1190+35delinsCCTAG
NM_001024946.2:c.1172+31_1172+35delinsCCTAG	NP_001020117.1:n.1172+31_1172+35delinsCCTAG