Canonical Allele Identifier: CA2580616607

Gene: ATL1

Linked Data

• ClinVar Variation Id: 2571516
• ClinVar RCV Id: RCV003312916

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628376_50628377dup , CM000676.2:g.50628376_50628377dup	GRCh38
NC_000014.8:g.51095094_51095095dup , CM000676.1:g.51095094_51095095dup	GRCh37
NC_000014.7:g.50164844_50164845dup	NCBI36
NG_009028.1:g.100295_100296dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1465_1466dup	ENSP00000450989.2:p.Thr490AlafsTer18
ENST00000556478.3:c.1465_1466dup	ENSP00000501428.2:p.Thr490AlafsTer18
ENST00000682037.1:c.1465_1466dup	ENSP00000508289.1:p.Thr490AlafsTer18
ENST00000682219.1:n.2803_2804dup
ENST00000683037.1:n.1386_1387dup
ENST00000683330.1:n.1799_1800dup
ENST00000358385.12:c.1465_1466dup MANE Select	ENSP00000351155.7:p.Thr490AlafsTer18
ENST00000674288.1:c.*2757_*2758dup	ENSP00000501522.1:n.*2757_*2758dup
ENST00000358385.10:c.1465_1466dup	ENSP00000351155.6:p.Thr490AlafsTer18
ENST00000441560.6:c.1465_1466dup	ENSP00000413675.2:p.Thr490AlafsTer18
ENST00000556067.1:c.211_212dup	ENSP00000451100.1:p.Thr72AlafsTer18
NM_001127713.1:c.1465_1466dup	NP_001121185.1:p.Thr490AlafsTer18
NM_015915.4:c.1465_1466dup	NP_056999.2:p.Thr490AlafsTer18
NM_181598.3:c.1465_1466dup	NP_853629.2:p.Thr490AlafsTer18
NM_015915.5:c.1465_1466dup MANE Select	NP_056999.2:p.Thr490AlafsTer18
NM_181598.4:c.1465_1466dup	NP_853629.2:p.Thr490AlafsTer18