Canonical Allele Identifier: CA5034334

Gene: DNAI1

Linked Data

• dbSNP Id: rs774160241
• ExAC: 9:34506840 A / AAG
• gnomAD v2: 9-34506840-A-AAG
• MyVariant Identifiers: chr9:g.34506840_34506841insAG (hg19) ; chr9:g.34506842_34506843insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506843_34506844dup , CM000671.2:g.34506843_34506844dup	GRCh38
NC_000009.11:g.34506841_34506842dup , CM000671.1:g.34506841_34506842dup	GRCh37
NC_000009.10:g.34496841_34496842dup	NCBI36
NG_008127.1:g.53031_53032dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1280_1281dup MANE Select	ENSP00000242317.4:p.Gly429LeufsTer?
ENST00000242317.8:c.1280_1281dup	ENSP00000242317.4:p.Gly429LeufsTer?
ENST00000470169.5:c.217_218dup
ENST00000614641.4:c.1292_1293dup	ENSP00000480538.1:p.Gly433LeufsTer?
NM_001281428.1:c.1292_1293dup	NP_001268357.1:p.Gly433LeufsTer?
NM_012144.3:c.1280_1281dup	NP_036276.1:p.Gly429LeufsTer?
XM_006716758.2:c.749_750dup	XP_006716821.1:p.Gly252LeufsTer?
XM_011517846.1:c.1292_1293dup	XP_011516148.1:p.Gly433LeufsTer?
XM_011517847.1:c.1292_1293dup	XP_011516149.1:p.Gly433LeufsTer?
XM_011517848.1:c.1292_1293dup	XP_011516150.1:p.Gly433LeufsTer?
XM_011517849.1:c.1292_1293dup	XP_011516151.1:p.Gly433LeufsTer?
XM_011517850.1:c.1292_1293dup	XP_011516152.1:p.Gly433LeufsTer15
XR_929232.1:n.1546_1547dup
XR_929233.1:n.1546_1547dup
XR_929235.1:n.1546_1547dup
XM_006716758.3:c.749_750dup	XP_006716821.1:p.Gly252LeufsTer?
XM_011517846.2:c.1292_1293dup	XP_011516148.1:p.Gly433LeufsTer?
XM_011517847.3:c.1292_1293dup	XP_011516149.1:p.Gly433LeufsTer?
XM_011517848.2:c.1292_1293dup	XP_011516150.1:p.Gly433LeufsTer?
XM_011517849.2:c.1292_1293dup	XP_011516151.1:p.Gly433LeufsTer?
XM_011517850.3:c.1292_1293dup	XP_011516152.1:p.Gly433LeufsTer15
XM_017014625.2:c.1280_1281dup	XP_016870114.1:p.Gly429LeufsTer?
XR_002956774.1:n.1493_1494dup
XR_929232.2:n.1493_1494dup
XR_929233.2:n.1493_1494dup
NM_012144.4:c.1280_1281dup MANE Select	NP_036276.1:p.Gly429LeufsTer?
NM_001281428.2:c.1292_1293dup	NP_001268357.1:p.Gly433LeufsTer?