Canonical Allele Identifier: CA2689797910

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34506930-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506931del , CM000671.2:g.34506931del	GRCh38
NC_000009.11:g.34506929del , CM000671.1:g.34506929del	GRCh37
NC_000009.10:g.34496929del	NCBI36
NG_008127.1:g.53119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1311+57del MANE Select	ENSP00000242317.4:n.1311+57del
ENST00000242317.8:c.1311+57del	ENSP00000242317.4:n.1311+57del
ENST00000470169.5:c.248+57del
ENST00000614641.4:c.1323+57del	ENSP00000480538.1:n.1323+57del
NM_001281428.1:c.1323+57del	NP_001268357.1:n.1323+57del
NM_012144.3:c.1311+57del	NP_036276.1:n.1311+57del
XM_006716758.2:c.780+57del	XP_006716821.1:n.780+57del
XM_011517846.1:c.1323+57del	XP_011516148.1:n.1323+57del
XM_011517847.1:c.1323+57del	XP_011516149.1:n.1323+57del
XM_011517848.1:c.1323+57del	XP_011516150.1:n.1323+57del
XM_011517849.1:c.1323+57del	XP_011516151.1:n.1323+57del
XM_011517850.1:c.1323+57del	XP_011516152.1:n.1323+57del
XR_929232.1:n.1577+57del
XR_929233.1:n.1577+57del
XR_929235.1:n.1577+57del
XM_006716758.3:c.780+57del	XP_006716821.1:n.780+57del
XM_011517846.2:c.1323+57del	XP_011516148.1:n.1323+57del
XM_011517847.3:c.1323+57del	XP_011516149.1:n.1323+57del
XM_011517848.2:c.1323+57del	XP_011516150.1:n.1323+57del
XM_011517849.2:c.1323+57del	XP_011516151.1:n.1323+57del
XM_011517850.3:c.1323+57del	XP_011516152.1:n.1323+57del
XM_017014625.2:c.1311+57del	XP_016870114.1:n.1311+57del
XR_002956774.1:n.1524+57del
XR_929232.2:n.1524+57del
XR_929233.2:n.1524+57del
NM_012144.4:c.1311+57del MANE Select	NP_036276.1:n.1311+57del
NM_001281428.2:c.1323+57del	NP_001268357.1:n.1323+57del