Canonical Allele Identifier: CA841274208

Gene: ASL

Linked Data

• dbSNP Id: rs1183675955
• gnomAD v3: 7-66092294-TAA-T
• gnomAD v4: 7-66092294-TAA-T
• MyVariant Identifiers: chr7:g.65557282_65557283del (hg19) ; chr7:g.66092295_66092296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092298_66092299del , CM000669.2:g.66092298_66092299del	GRCh38
NC_000007.13:g.65557285_65557286del , CM000669.1:g.65557285_65557286del	GRCh37
NC_000007.12:g.65194720_65194721del	NCBI36
NG_009288.1:g.21510_21511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+212_1143+213del MANE Select	ENSP00000307188.9:n.1143+212_1143+213del
ENST00000362000.10:c.948+212_948+213del	ENSP00000354710.6:n.948+212_948+213del
ENST00000380839.9:c.1065+212_1065+213del	ENSP00000370219.4:n.1065+212_1065+213del
ENST00000395331.4:c.1083+212_1083+213del	ENSP00000378740.3:n.1083+212_1083+213del
ENST00000395332.8:c.1143+212_1143+213del	ENSP00000378741.3:n.1143+212_1143+213del
ENST00000488343.2:c.148-606_148-605del	ENSP00000500864.1:n.148-606_148-605del
ENST00000672498.1:c.*442+212_*442+213del	ENSP00000500227.1:n.*442+212_*442+213del
ENST00000672586.1:n.1902+212_1902+213del
ENST00000672676.1:n.2167+212_2167+213del
ENST00000673149.1:n.955+212_955+213del
ENST00000673350.1:n.3260+212_3260+213del
ENST00000673518.1:c.1065+212_1065+213del	ENSP00000499889.1:n.1065+212_1065+213del
ENST00000304874.13:c.1143+212_1143+213del	ENSP00000307188.9:n.1143+212_1143+213del
ENST00000380839.8:c.1065+212_1065+213del	ENSP00000370219.4:n.1065+212_1065+213del
ENST00000395331.3:c.1083+212_1083+213del	ENSP00000378740.3:n.1083+212_1083+213del
ENST00000395332.7:c.1143+212_1143+213del	ENSP00000378741.3:n.1143+212_1143+213del
ENST00000450043.2:c.456+212_456+213del	ENSP00000396527.2:n.456+212_456+213del
ENST00000464970.1:n.346+212_346+213del
ENST00000488343.1:n.148-606_148-605del
ENST00000493708.5:n.624+212_624+213del
NM_000048.3:c.1143+212_1143+213del	NP_000039.2:n.1143+212_1143+213del
NM_001024943.1:c.1143+212_1143+213del	NP_001020114.1:n.1143+212_1143+213del
NM_001024944.1:c.1083+212_1083+213del	NP_001020115.1:n.1083+212_1083+213del
NM_001024946.1:c.1065+212_1065+213del	NP_001020117.1:n.1065+212_1065+213del
NM_000048.4:c.1143+212_1143+213del MANE Select	NP_000039.2:n.1143+212_1143+213del
NM_001024943.2:c.1143+212_1143+213del	NP_001020114.1:n.1143+212_1143+213del
NM_001024944.2:c.1083+212_1083+213del	NP_001020115.1:n.1083+212_1083+213del
NM_001024946.2:c.1065+212_1065+213del	NP_001020117.1:n.1065+212_1065+213del