Canonical Allele Identifier: CA614274812

Gene: ATL1

Linked Data

• dbSNP Id: rs1566735826
• gnomAD v2: 14-51094980-CTG-C
• MyVariant Identifiers: chr14:g.51094981_51094982del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628264_50628265del , CM000676.2:g.50628264_50628265del	GRCh38
NC_000014.8:g.51094982_51094983del , CM000676.1:g.51094982_51094983del	GRCh37
NC_000014.7:g.50164732_50164733del	NCBI36
NG_009028.1:g.100183_100184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1353_1354del	ENSP00000450989.2:p.Phe452CysfsTer23
ENST00000556478.3:c.1353_1354del	ENSP00000501428.2:p.Phe452CysfsTer23
ENST00000682037.1:c.1353_1354del	ENSP00000508289.1:p.Phe452CysfsTer23
ENST00000682219.1:n.2691_2692del
ENST00000683037.1:n.1274_1275del
ENST00000683330.1:n.1687_1688del
ENST00000358385.12:c.1353_1354del MANE Select	ENSP00000351155.7:p.Phe452CysfsTer23
ENST00000674288.1:c.*2645_*2646del	ENSP00000501522.1:n.*2645_*2646del
ENST00000358385.10:c.1353_1354del	ENSP00000351155.6:p.Phe452CysfsTer23
ENST00000441560.6:c.1353_1354del	ENSP00000413675.2:p.Phe452CysfsTer23
ENST00000556067.1:c.99_100del	ENSP00000451100.1:p.Phe34CysfsTer23
NM_001127713.1:c.1353_1354del	NP_001121185.1:p.Phe452CysfsTer23
NM_015915.4:c.1353_1354del	NP_056999.2:p.Phe452CysfsTer23
NM_181598.3:c.1353_1354del	NP_853629.2:p.Phe452CysfsTer23
NM_015915.5:c.1353_1354del MANE Select	NP_056999.2:p.Phe452CysfsTer23
NM_181598.4:c.1353_1354del	NP_853629.2:p.Phe452CysfsTer23