Canonical Allele Identifier: CA2697557727

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2709136
• ClinVar RCV Id: RCV003536505

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34485130del , CM000671.2:g.34485130del	GRCh38
NC_000009.11:g.34485128del , CM000671.1:g.34485128del	GRCh37
NC_000009.10:g.34475128del	NCBI36
NG_008127.1:g.31318del

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.82-12del MANE Select	ENSP00000242317.4:n.82-12del
ENST00000242317.8:c.82-12del	ENSP00000242317.4:n.82-12del
ENST00000437363.5:c.49-12del	ENSP00000395396.1:n.49-12del
ENST00000470982.5:n.81-12del
ENST00000488369.1:n.85del
ENST00000614641.4:c.82-12del	ENSP00000480538.1:n.82-12del
NM_001281428.1:c.82-12del	NP_001268357.1:n.82-12del
NM_012144.3:c.82-12del	NP_036276.1:n.82-12del
XM_011517846.1:c.82-12del	XP_011516148.1:n.82-12del
XM_011517847.1:c.82-12del	XP_011516149.1:n.82-12del
XM_011517848.1:c.82-12del	XP_011516150.1:n.82-12del
XM_011517849.1:c.82-12del	XP_011516151.1:n.82-12del
XM_011517850.1:c.82-12del	XP_011516152.1:n.82-12del
XR_929232.1:n.336-12del
XR_929233.1:n.336-12del
XR_929235.1:n.336-12del
XM_006716758.3:c.-395-12del	XP_006716821.1:n.-395-12del
XM_011517846.2:c.82-12del	XP_011516148.1:n.82-12del
XM_011517847.3:c.82-12del	XP_011516149.1:n.82-12del
XM_011517848.2:c.82-12del	XP_011516150.1:n.82-12del
XM_011517849.2:c.82-12del	XP_011516151.1:n.82-12del
XM_011517850.3:c.82-12del	XP_011516152.1:n.82-12del
XM_017014625.2:c.82-12del	XP_016870114.1:n.82-12del
XR_002956774.1:n.283-12del
XR_929232.2:n.283-12del
XR_929233.2:n.283-12del
NM_012144.4:c.82-12del MANE Select	NP_036276.1:n.82-12del
NM_001281428.2:c.82-12del	NP_001268357.1:n.82-12del