Canonical Allele Identifier: CA2573053916

Gene: ATL1

Linked Data

• ClinVar Variation Id: 1302614
• ClinVar RCV Id: RCV001756288
• dbSNP Id: rs2140239426

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628427del , CM000676.2:g.50628427del	GRCh38
NC_000014.8:g.51095145del , CM000676.1:g.51095145del	GRCh37
NC_000014.7:g.50164895del	NCBI36
NG_009028.1:g.100346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1516del	ENSP00000450989.2:p.Val506Ter
ENST00000556478.3:c.1516del	ENSP00000501428.2:p.Val506Ter
ENST00000682037.1:c.1516del	ENSP00000508289.1:p.Val506Ter
ENST00000682219.1:n.2854del
ENST00000683037.1:n.1437del
ENST00000683330.1:n.1850del
ENST00000358385.12:c.1516del MANE Select	ENSP00000351155.7:p.Val506Ter
ENST00000674288.1:c.*2808del	ENSP00000501522.1:n.*2808del
ENST00000358385.10:c.1516del	ENSP00000351155.6:p.Val506Ter
ENST00000441560.6:c.1516del	ENSP00000413675.2:p.Val506Ter
ENST00000556067.1:c.262del	ENSP00000451100.1:p.Val88Ter
NM_001127713.1:c.1516del	NP_001121185.1:p.Val506Ter
NM_015915.4:c.1516del	NP_056999.2:p.Val506Ter
NM_181598.3:c.1516del	NP_853629.2:p.Val506Ter
NM_015915.5:c.1516del MANE Select	NP_056999.2:p.Val506Ter
NM_181598.4:c.1516del	NP_853629.2:p.Val506Ter