Canonical Allele Identifier: CA966256

Gene: AGL

Linked Data

• ClinVar Variation Id: 370509
• ClinVar RCV Id: RCV000409582 ; RCV001008814
• dbSNP Id: rs748789700
• ExAC: 1:100336040 TAGAC / T
• gnomAD v2: 1-100336040-TAGAC-T
• gnomAD v3: 1-99870484-TAGAC-T
• gnomAD v4: 1-99870484-TAGAC-T
• MyVariant Identifiers: chr1:g.100336044_100336047del (hg19) ; chr1:g.100336041_100336044del (hg19) ; chr1:g.99870488_99870491del (hg38) ; chr1:g.99870485_99870488del (hg38)
• PubMed: PMID:16189622 ; PMID:16705713 ; PMID:23430490 ; PMID:25431232

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870488_99870491del , CM000663.2:g.99870488_99870491del	GRCh38
NC_000001.10:g.100336044_100336047del , CM000663.1:g.100336044_100336047del	GRCh37
NC_000001.9:g.100108632_100108635del	NCBI36
NG_012865.1:g.25405_25408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.753_756del MANE Select	ENSP00000355106.3:p.Asp251GlufsTer23
ENST00000637337.1:n.964_967del
ENST00000294724.8:c.753_756del	ENSP00000294724.4:p.Asp251GlufsTer23
ENST00000361302.7:c.705_708del	ENSP00000354971.3:p.Asp235GlufsTer23
ENST00000361522.4:c.702_705del	ENSP00000354635.4:p.Asp234GlufsTer23
ENST00000361915.7:c.753_756del	ENSP00000355106.3:p.Asp251GlufsTer23
ENST00000370161.6:c.705_708del	ENSP00000359180.2:p.Asp235GlufsTer23
ENST00000370163.7:c.753_756del	ENSP00000359182.3:p.Asp251GlufsTer23
ENST00000370165.7:c.753_756del	ENSP00000359184.3:p.Asp251GlufsTer23
NM_000028.2:c.753_756del	NP_000019.2:p.Asp251GlufsTer23
NM_000642.2:c.753_756del	NP_000633.2:p.Asp251GlufsTer23
NM_000643.2:c.753_756del	NP_000634.2:p.Asp251GlufsTer23
NM_000644.2:c.753_756del	NP_000635.2:p.Asp251GlufsTer23
NM_000645.2:c.702_705del	NP_000636.2:p.Asp234GlufsTer23
NM_000646.2:c.705_708del	NP_000637.2:p.Asp235GlufsTer23
XM_005270557.1:c.753_756del	XP_005270614.1:p.Asp251GlufsTer23
XM_005270557.2:c.753_756del	XP_005270614.1:p.Asp251GlufsTer23
NM_000642.3:c.753_756del MANE Select	NP_000633.2:p.Asp251GlufsTer23