Canonical Allele Identifier: CA5033998

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1616199
• ClinVar RCV Id: RCV002084135
• dbSNP Id: rs572785591
• ExAC: 9:34489305 GC / G
• gnomAD v2: 9-34489305-GC-G
• gnomAD v3: 9-34489307-GC-G
• gnomAD v4: 9-34489307-GC-G
• MyVariant Identifiers: chr9:g.34489306del (hg19) ; chr9:g.34489309del (hg38) ; chr9:g.34489308del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34489311del , CM000671.2:g.34489311del	GRCh38
NC_000009.11:g.34489309del , CM000671.1:g.34489309del	GRCh37
NC_000009.10:g.34479309del	NCBI36
NG_008127.1:g.35499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.262-12del MANE Select	ENSP00000242317.4:n.262-12del
ENST00000242317.8:c.262-12del	ENSP00000242317.4:n.262-12del
ENST00000437363.5:c.229-12del	ENSP00000395396.1:n.229-12del
ENST00000488369.1:n.378-12del
ENST00000614641.4:c.262-12del	ENSP00000480538.1:n.262-12del
NM_001281428.1:c.262-12del	NP_001268357.1:n.262-12del
NM_012144.3:c.262-12del	NP_036276.1:n.262-12del
XM_011517846.1:c.262-12del	XP_011516148.1:n.262-12del
XM_011517847.1:c.262-12del	XP_011516149.1:n.262-12del
XM_011517848.1:c.262-12del	XP_011516150.1:n.262-12del
XM_011517849.1:c.262-12del	XP_011516151.1:n.262-12del
XM_011517850.1:c.262-12del	XP_011516152.1:n.262-12del
XR_929232.1:n.516-12del
XR_929233.1:n.516-12del
XR_929235.1:n.516-12del
XM_006716758.3:c.-215-12del	XP_006716821.1:n.-215-12del
XM_011517846.2:c.262-12del	XP_011516148.1:n.262-12del
XM_011517847.3:c.262-12del	XP_011516149.1:n.262-12del
XM_011517848.2:c.262-12del	XP_011516150.1:n.262-12del
XM_011517849.2:c.262-12del	XP_011516151.1:n.262-12del
XM_011517850.3:c.262-12del	XP_011516152.1:n.262-12del
XM_017014625.2:c.262-12del	XP_016870114.1:n.262-12del
XR_002956774.1:n.463-12del
XR_929232.2:n.463-12del
XR_929233.2:n.463-12del
NM_012144.4:c.262-12del MANE Select	NP_036276.1:n.262-12del
NM_001281428.2:c.262-12del	NP_001268357.1:n.262-12del