Canonical Allele Identifier: CA2690748103

Gene: BARX1

Linked Data

• gnomAD v4: 9-93953319-C-CGCAAAACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93953319_93953320insGCAAAACCT , CM000671.2:g.93953319_93953320insGCAAAACCT	GRCh38
NC_000009.11:g.96715601_96715602insGCAAAACCT , CM000671.1:g.96715601_96715602insGCAAAACCT	GRCh37
NC_000009.10:g.95755422_95755423insGCAAAACCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253968.11:c.224-133_224-132insAGGTTTTGC MANE Select	ENSP00000253968.5:n.224-133_224-132insAGGTTTTGC
ENST00000253968.10:c.224-133_224-132insAGGTTTTGC	ENSP00000253968.5:n.224-133_224-132insAGGTTTTGC
ENST00000401724.1:c.-372_-371insAGGTTTTGC	ENSP00000385613.1:n.-372_-371insAGGTTTTGC
NM_021570.3:c.224-133_224-132insAGGTTTTGC	NP_067545.3:n.224-133_224-132insAGGTTTTGC
NM_021570.4:c.224-133_224-132insAGGTTTTGC MANE Select	NP_067545.3:n.224-133_224-132insAGGTTTTGC