Canonical Allele Identifier: CA841274327

Gene: ASL

Linked Data

• dbSNP Id: rs67457607
• gnomAD v3: 7-66092461-G-GAA
• gnomAD v4: 7-66092461-G-GAA
• MyVariant Identifiers: chr7:g.65557448_65557449insAA (hg19) ; chr7:g.66092461_66092462insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092476_66092477dup , CM000669.2:g.66092476_66092477dup	GRCh38
NC_000007.13:g.65557463_65557464dup , CM000669.1:g.65557463_65557464dup	GRCh37
NC_000007.12:g.65194898_65194899dup	NCBI36
NG_009288.1:g.21688_21689dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1144-81_1144-80dup MANE Select	ENSP00000307188.9:n.1144-81_1144-80dup
ENST00000362000.10:c.949-81_949-80dup	ENSP00000354710.6:n.949-81_949-80dup
ENST00000380839.9:c.1066-81_1066-80dup	ENSP00000370219.4:n.1066-81_1066-80dup
ENST00000395331.4:c.1084-81_1084-80dup	ENSP00000378740.3:n.1084-81_1084-80dup
ENST00000395332.8:c.1144-81_1144-80dup	ENSP00000378741.3:n.1144-81_1144-80dup
ENST00000488343.2:c.148-428_148-427dup	ENSP00000500864.1:n.148-428_148-427dup
ENST00000672498.1:c.*443-81_*443-80dup	ENSP00000500227.1:n.*443-81_*443-80dup
ENST00000672586.1:n.1903-81_1903-80dup
ENST00000672676.1:n.2168-81_2168-80dup
ENST00000673149.1:n.956-81_956-80dup
ENST00000673350.1:n.3261-81_3261-80dup
ENST00000673518.1:c.1066-81_1066-80dup	ENSP00000499889.1:n.1066-81_1066-80dup
ENST00000304874.13:c.1144-81_1144-80dup	ENSP00000307188.9:n.1144-81_1144-80dup
ENST00000380839.8:c.1066-81_1066-80dup	ENSP00000370219.4:n.1066-81_1066-80dup
ENST00000395331.3:c.1084-81_1084-80dup	ENSP00000378740.3:n.1084-81_1084-80dup
ENST00000395332.7:c.1144-81_1144-80dup	ENSP00000378741.3:n.1144-81_1144-80dup
ENST00000450043.2:c.457-81_457-80dup	ENSP00000396527.2:n.457-81_457-80dup
ENST00000464970.1:n.347-81_347-80dup
ENST00000488343.1:n.148-428_148-427dup
ENST00000493708.5:n.625-81_625-80dup
NM_000048.3:c.1144-81_1144-80dup	NP_000039.2:n.1144-81_1144-80dup
NM_001024943.1:c.1144-81_1144-80dup	NP_001020114.1:n.1144-81_1144-80dup
NM_001024944.1:c.1084-81_1084-80dup	NP_001020115.1:n.1084-81_1084-80dup
NM_001024946.1:c.1066-81_1066-80dup	NP_001020117.1:n.1066-81_1066-80dup
NM_000048.4:c.1144-81_1144-80dup MANE Select	NP_000039.2:n.1144-81_1144-80dup
NM_001024943.2:c.1144-81_1144-80dup	NP_001020114.1:n.1144-81_1144-80dup
NM_001024944.2:c.1084-81_1084-80dup	NP_001020115.1:n.1084-81_1084-80dup
NM_001024946.2:c.1066-81_1066-80dup	NP_001020117.1:n.1066-81_1066-80dup