Canonical Allele Identifier: CA192653427

Gene: DNAI1

Linked Data

• dbSNP Id: rs1040598687
• gnomAD v2: 9-34517248-T-TACCC
• gnomAD v3: 9-34517250-T-TACCC
• gnomAD v4: 9-34517250-T-TACCC
• MyVariant Identifiers: chr9:g.34517248_34517249insACCC (hg19) ; chr9:g.34517250_34517251insACCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517251_34517254dup , CM000671.2:g.34517251_34517254dup	GRCh38
NC_000009.11:g.34517249_34517252dup , CM000671.1:g.34517249_34517252dup	GRCh37
NC_000009.10:g.34507249_34507252dup	NCBI36
NG_008127.1:g.63439_63442dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-34_1819-31dup MANE Select	ENSP00000242317.4:n.1819-34_1819-31dup
ENST00000242317.8:c.1819-34_1819-31dup	ENSP00000242317.4:n.1819-34_1819-31dup
ENST00000442556.1:c.329+2512_329+2515dup
ENST00000470169.5:c.607-34_607-31dup
ENST00000485580.1:n.395-34_395-31dup
ENST00000614641.4:c.1831-34_1831-31dup	ENSP00000480538.1:n.1831-34_1831-31dup
NM_001281428.1:c.1831-34_1831-31dup	NP_001268357.1:n.1831-34_1831-31dup
NM_012144.3:c.1819-34_1819-31dup	NP_036276.1:n.1819-34_1819-31dup
XM_006716758.2:c.1288-34_1288-31dup	XP_006716821.1:n.1288-34_1288-31dup
XM_011517847.1:c.*21_*24dup	XP_011516149.1:n.*21_*24dup
XM_011517848.1:c.1573-34_1573-31dup	XP_011516150.1:n.1573-34_1573-31dup
XR_929233.1:n.2031_2034dup
XM_006716758.3:c.1288-34_1288-31dup	XP_006716821.1:n.1288-34_1288-31dup
XM_011517847.3:c.*21_*24dup	XP_011516149.1:n.*21_*24dup
XM_011517848.2:c.1573-34_1573-31dup	XP_011516150.1:n.1573-34_1573-31dup
XM_017014625.2:c.1561-34_1561-31dup	XP_016870114.1:n.1561-34_1561-31dup
XR_002956774.1:n.1922-34_1922-31dup
XR_929233.2:n.1978_1981dup
NM_012144.4:c.1819-34_1819-31dup MANE Select	NP_036276.1:n.1819-34_1819-31dup
NM_001281428.2:c.1831-34_1831-31dup	NP_001268357.1:n.1831-34_1831-31dup