Canonical Allele Identifier: CA1123116696

Gene: DNAI1

Linked Data

• gnomAD v3: 9-34517258-AGTG-A
• gnomAD v4: 9-34517258-AGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517259_34517261del , CM000671.2:g.34517259_34517261del	GRCh38
NC_000009.11:g.34517257_34517259del , CM000671.1:g.34517257_34517259del	GRCh37
NC_000009.10:g.34507257_34507259del	NCBI36
NG_008127.1:g.63447_63449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-26_1819-24del MANE Select	ENSP00000242317.4:n.1819-26_1819-24del
ENST00000242317.8:c.1819-26_1819-24del	ENSP00000242317.4:n.1819-26_1819-24del
ENST00000442556.1:c.329+2520_329+2522del
ENST00000470169.5:c.607-26_607-24del
ENST00000485580.1:n.395-26_395-24del
ENST00000614641.4:c.1831-26_1831-24del	ENSP00000480538.1:n.1831-26_1831-24del
NM_001281428.1:c.1831-26_1831-24del	NP_001268357.1:n.1831-26_1831-24del
NM_012144.3:c.1819-26_1819-24del	NP_036276.1:n.1819-26_1819-24del
XM_006716758.2:c.1288-26_1288-24del	XP_006716821.1:n.1288-26_1288-24del
XM_011517847.1:c.*29_*31del	XP_011516149.1:n.*29_*31del
XM_011517848.1:c.1573-26_1573-24del	XP_011516150.1:n.1573-26_1573-24del
XR_929233.1:n.2039_2041del
XM_006716758.3:c.1288-26_1288-24del	XP_006716821.1:n.1288-26_1288-24del
XM_011517847.3:c.*29_*31del	XP_011516149.1:n.*29_*31del
XM_011517848.2:c.1573-26_1573-24del	XP_011516150.1:n.1573-26_1573-24del
XM_017014625.2:c.1561-26_1561-24del	XP_016870114.1:n.1561-26_1561-24del
XR_002956774.1:n.1922-26_1922-24del
XR_929233.2:n.1986_1988del
NM_012144.4:c.1819-26_1819-24del MANE Select	NP_036276.1:n.1819-26_1819-24del
NM_001281428.2:c.1831-26_1831-24del	NP_001268357.1:n.1831-26_1831-24del