Canonical Allele Identifier: CA2580616608
Gene: ATL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2571517
ClinVar RCV Id: RCV003312917

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50628385dup , CM000676.2:g.50628385dup GRCh38
NC_000014.8:g.51095103dup , CM000676.1:g.51095103dup GRCh37
NC_000014.7:g.50164853dup NCBI36
NG_009028.1:g.100304dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553509.2:c.1474dup ENSP00000450989.2:p.Ala492GlyfsTer?
ENST00000556478.3:c.1474dup ENSP00000501428.2:p.Ala492GlyfsTer?
ENST00000682037.1:c.1474dup ENSP00000508289.1:p.Ala492GlyfsTer?
ENST00000682219.1:n.2812dup
ENST00000683037.1:n.1395dup
ENST00000683330.1:n.1808dup
ENST00000358385.12:c.1474dup MANE Select ENSP00000351155.7:p.Ala492GlyfsTer?
ENST00000674288.1:c.*2766dup ENSP00000501522.1:n.*2766dup
ENST00000358385.10:c.1474dup ENSP00000351155.6:p.Ala492GlyfsTer?
ENST00000441560.6:c.1474dup ENSP00000413675.2:p.Ala492GlyfsTer?
ENST00000556067.1:c.220dup ENSP00000451100.1:p.Ala74GlyfsTer?
NM_001127713.1:c.1474dup NP_001121185.1:p.Ala492GlyfsTer?
NM_015915.4:c.1474dup NP_056999.2:p.Ala492GlyfsTer?
NM_181598.3:c.1474dup NP_853629.2:p.Ala492GlyfsTer?
NM_015915.5:c.1474dup MANE Select NP_056999.2:p.Ala492GlyfsTer?
NM_181598.4:c.1474dup NP_853629.2:p.Ala492GlyfsTer?