Canonical Allele Identifier: CA2801546443
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50628086_50628087del , CM000676.2:g.50628086_50628087del GRCh38
NC_000014.8:g.51094804_51094805del , CM000676.1:g.51094804_51094805del GRCh37
NC_000014.7:g.50164554_50164555del NCBI36
NG_009028.1:g.100005_100006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553509.2:c.1175_1176del ENSP00000450989.2:p.Leu392ProfsTer3
ENST00000556478.3:c.1175_1176del ENSP00000501428.2:p.Leu392ProfsTer3
ENST00000682037.1:c.1175_1176del ENSP00000508289.1:p.Leu392ProfsTer3
ENST00000682219.1:n.2513_2514del
ENST00000683037.1:n.1096_1097del
ENST00000683330.1:n.1509_1510del
ENST00000358385.12:c.1175_1176del MANE Select ENSP00000351155.7:p.Leu392ProfsTer3
ENST00000674288.1:c.*2467_*2468del ENSP00000501522.1:n.*2467_*2468del
ENST00000358385.10:c.1175_1176del ENSP00000351155.6:p.Leu392ProfsTer3
ENST00000441560.6:c.1175_1176del ENSP00000413675.2:p.Leu392ProfsTer3
ENST00000555266.1:c.318_319del ENSP00000450897.1:n.318_319del
NM_001127713.1:c.1175_1176del NP_001121185.1:p.Leu392ProfsTer3
NM_015915.4:c.1175_1176del NP_056999.2:p.Leu392ProfsTer3
NM_181598.3:c.1175_1176del NP_853629.2:p.Leu392ProfsTer3
NM_015915.5:c.1175_1176del MANE Select NP_056999.2:p.Leu392ProfsTer3
NM_181598.4:c.1175_1176del NP_853629.2:p.Leu392ProfsTer3