Canonical Allele Identifier: CA4277312

Gene: ASL

Linked Data

• dbSNP Id: rs543304902
• ExAC: 7:65557115 G / GCC
• gnomAD v2: 7-65557115-G-GCC
• gnomAD v4: 7-66092128-G-GCC
• MyVariant Identifiers: chr7:g.65557116_65557117insCC (hg19) ; chr7:g.65557115_65557116insCC (hg19) ; chr7:g.66092129_66092130insCC (hg38) ; chr7:g.66092128_66092129insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092135_66092136dup , CM000669.2:g.66092135_66092136dup	GRCh38
NC_000007.13:g.65557122_65557123dup , CM000669.1:g.65557122_65557123dup	GRCh37
NC_000007.12:g.65194557_65194558dup	NCBI36
NG_009288.1:g.21347_21348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+49_1143+50dup MANE Select	ENSP00000307188.9:n.1143+49_1143+50dup
ENST00000362000.10:c.948+49_948+50dup	ENSP00000354710.6:n.948+49_948+50dup
ENST00000380839.9:c.1065+49_1065+50dup	ENSP00000370219.4:n.1065+49_1065+50dup
ENST00000395331.4:c.1083+49_1083+50dup	ENSP00000378740.3:n.1083+49_1083+50dup
ENST00000395332.8:c.1143+49_1143+50dup	ENSP00000378741.3:n.1143+49_1143+50dup
ENST00000488343.2:c.148-769_148-768dup	ENSP00000500864.1:n.148-769_148-768dup
ENST00000672498.1:c.*442+49_*442+50dup	ENSP00000500227.1:n.*442+49_*442+50dup
ENST00000672586.1:n.1902+49_1902+50dup
ENST00000672676.1:n.2167+49_2167+50dup
ENST00000673149.1:n.955+49_955+50dup
ENST00000673350.1:n.3260+49_3260+50dup
ENST00000673518.1:c.1065+49_1065+50dup	ENSP00000499889.1:n.1065+49_1065+50dup
ENST00000304874.13:c.1143+49_1143+50dup	ENSP00000307188.9:n.1143+49_1143+50dup
ENST00000380839.8:c.1065+49_1065+50dup	ENSP00000370219.4:n.1065+49_1065+50dup
ENST00000395331.3:c.1083+49_1083+50dup	ENSP00000378740.3:n.1083+49_1083+50dup
ENST00000395332.7:c.1143+49_1143+50dup	ENSP00000378741.3:n.1143+49_1143+50dup
ENST00000450043.2:c.456+49_456+50dup	ENSP00000396527.2:n.456+49_456+50dup
ENST00000464970.1:n.346+49_346+50dup
ENST00000488343.1:n.148-769_148-768dup
ENST00000493708.5:n.624+49_624+50dup
NM_000048.3:c.1143+49_1143+50dup	NP_000039.2:n.1143+49_1143+50dup
NM_001024943.1:c.1143+49_1143+50dup	NP_001020114.1:n.1143+49_1143+50dup
NM_001024944.1:c.1083+49_1083+50dup	NP_001020115.1:n.1083+49_1083+50dup
NM_001024946.1:c.1065+49_1065+50dup	NP_001020117.1:n.1065+49_1065+50dup
NM_000048.4:c.1143+49_1143+50dup MANE Select	NP_000039.2:n.1143+49_1143+50dup
NM_001024943.2:c.1143+49_1143+50dup	NP_001020114.1:n.1143+49_1143+50dup
NM_001024944.2:c.1083+49_1083+50dup	NP_001020115.1:n.1083+49_1083+50dup
NM_001024946.2:c.1065+49_1065+50dup	NP_001020117.1:n.1065+49_1065+50dup