Canonical Allele Identifier: CA342177

Gene: ATL1

Linked Data

• ClinVar Variation Id: 21528
• ClinVar RCV Id: RCV000020718
• dbSNP Id: rs863223314
• MyVariant Identifiers: chr14:g.51095148dupA (hg19) ; chr14:g.50628430dupA (hg38)
• PubMed: PMID:20862796

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628430dup , CM000676.2:g.50628430dup	GRCh38
NC_000014.8:g.51095148dup , CM000676.1:g.51095148dup	GRCh37
NC_000014.7:g.50164898dup	NCBI36
NG_009028.1:g.100349dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1519dup	ENSP00000450989.2:p.Ile507AsnfsTer?
ENST00000556478.3:c.1519dup	ENSP00000501428.2:p.Ile507AsnfsTer?
ENST00000682037.1:c.1519dup	ENSP00000508289.1:p.Ile507AsnfsTer?
ENST00000682219.1:n.2857dup
ENST00000683037.1:n.1440dup
ENST00000683330.1:n.1853dup
ENST00000358385.12:c.1519dup MANE Select	ENSP00000351155.7:p.Ile507AsnfsTer16
ENST00000674288.1:c.*2811dup	ENSP00000501522.1:n.*2811dup
ENST00000358385.10:c.1519dup	ENSP00000351155.6:p.Ile507AsnfsTer16
ENST00000441560.6:c.1519dup	ENSP00000413675.2:p.Ile507AsnfsTer?
ENST00000556067.1:c.265dup	ENSP00000451100.1:p.Ile89AsnfsTer16
NM_001127713.1:c.1519dup	NP_001121185.1:p.Ile507AsnfsTer?
NM_015915.4:c.1519dup	NP_056999.2:p.Ile507AsnfsTer16
NM_181598.3:c.1519dup	NP_853629.2:p.Ile507AsnfsTer?
NM_015915.5:c.1519dup MANE Select	NP_056999.2:p.Ile507AsnfsTer16
NM_181598.4:c.1519dup	NP_853629.2:p.Ile507AsnfsTer?