Canonical Allele Identifier: CA2580616609

Gene: ATL1

Linked Data

• ClinVar Variation Id: 1508344
• ClinVar RCV Id: RCV002013922
• dbSNP Id: rs2140239392

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628416_50628417del , CM000676.2:g.50628416_50628417del	GRCh38
NC_000014.8:g.51095134_51095135del , CM000676.1:g.51095134_51095135del	GRCh37
NC_000014.7:g.50164884_50164885del	NCBI36
NG_009028.1:g.100335_100336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1505_1506del	ENSP00000450989.2:p.Glu502AlafsTer?
ENST00000556478.3:c.1505_1506del	ENSP00000501428.2:p.Glu502AlafsTer?
ENST00000682037.1:c.1505_1506del	ENSP00000508289.1:p.Glu502AlafsTer?
ENST00000682219.1:n.2843_2844del
ENST00000683037.1:n.1426_1427del
ENST00000683330.1:n.1839_1840del
ENST00000358385.12:c.1505_1506del MANE Select	ENSP00000351155.7:p.Glu502AlafsTer20
ENST00000674288.1:c.*2797_*2798del	ENSP00000501522.1:n.*2797_*2798del
ENST00000358385.10:c.1505_1506del	ENSP00000351155.6:p.Glu502AlafsTer20
ENST00000441560.6:c.1505_1506del	ENSP00000413675.2:p.Glu502AlafsTer?
ENST00000556067.1:c.251_252del	ENSP00000451100.1:p.Glu84AlafsTer20
NM_001127713.1:c.1505_1506del	NP_001121185.1:p.Glu502AlafsTer?
NM_015915.4:c.1505_1506del	NP_056999.2:p.Glu502AlafsTer20
NM_181598.3:c.1505_1506del	NP_853629.2:p.Glu502AlafsTer?
NM_015915.5:c.1505_1506del MANE Select	NP_056999.2:p.Glu502AlafsTer20
NM_181598.4:c.1505_1506del	NP_853629.2:p.Glu502AlafsTer?