Canonical Allele Identifier: CA2639677415

Gene: DNAI2

Linked Data

• gnomAD v4: 17-74301078-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74301081del , CM000679.2:g.74301081del	GRCh38
NC_000017.10:g.72297220del , CM000679.1:g.72297220del	GRCh37
NC_000017.9:g.69808815del	NCBI36
NG_016865.1:g.31835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311014.11:c.900del MANE Select	ENSP00000308312.6:p.Thr301LeufsTer4
ENST00000311014.10:c.900del	ENSP00000308312.6:p.Thr301LeufsTer4
ENST00000446837.2:c.900del	ENSP00000400252.2:p.Thr301LeufsTer4
ENST00000579055.5:c.*271del	ENSP00000462767.1:n.*271del
ENST00000579490.5:c.1071del	ENSP00000464197.1:p.Thr358LeufsTer4
ENST00000582036.5:c.900del	ENSP00000461950.1:p.Thr301LeufsTer4
NM_001172810.1:c.900del	NP_001166281.1:p.Thr301LeufsTer4
NM_023036.4:c.900del	NP_075462.3:p.Thr301LeufsTer4
XM_011525125.1:c.900del	XP_011523427.1:p.Thr301LeufsTer4
XR_429915.2:n.1022del
XR_429916.2:n.1022del
XR_934518.1:n.1024del
XR_934519.1:n.1021del
XR_934520.1:n.1097del
XR_934521.1:n.1009del
XR_934522.1:n.997del
XR_934523.1:n.1006del
XR_934524.1:n.1024del
XR_934525.1:n.1024del
XR_934526.1:n.910del
XR_934527.1:n.1022del
XR_934528.1:n.1022del
XR_934529.1:n.903del
XR_934530.1:n.976del
XR_934531.1:n.902del
NM_001172810.2:c.900del	NP_001166281.1:p.Thr301LeufsTer4
NM_001353167.1:c.900del	NP_001340096.1:p.Thr301LeufsTer4
NM_023036.5:c.900del	NP_075462.3:p.Thr301LeufsTer4
NR_148379.1:n.925del
XM_011525125.2:c.900del	XP_011523427.1:p.Thr301LeufsTer4
XM_024450874.1:c.900del	XP_024306642.1:p.Thr301LeufsTer4
XM_024450875.1:c.900del	XP_024306643.1:p.Thr301LeufsTer4
XM_024450876.1:c.900del	XP_024306644.1:p.Thr301LeufsTer4
XM_024450877.1:c.900del	XP_024306645.1:p.Thr301LeufsTer4
XM_024450878.1:c.900del	XP_024306646.1:p.Thr301LeufsTer4
XM_024450879.1:c.900del	XP_024306647.1:p.Thr301LeufsTer4
XM_024450880.1:c.900del	XP_024306648.1:p.Thr301LeufsTer4
XM_024450881.1:c.786del	XP_024306649.1:p.Thr263LeufsTer4
XM_024450882.1:c.900del	XP_024306650.1:p.Thr301LeufsTer4
XM_024450883.1:c.900del	XP_024306651.1:p.Thr301LeufsTer4
XM_024450884.1:c.900del	XP_024306652.1:p.Thr301LeufsTer4
XM_024450885.1:c.471del	XP_024306653.1:p.Thr158LeufsTer4
XM_024450886.1:c.471del	XP_024306654.1:p.Thr158LeufsTer4
NM_023036.6:c.900del MANE Select	NP_075462.3:p.Thr301LeufsTer4
NM_001172810.3:c.900del	NP_001166281.1:p.Thr301LeufsTer4
NM_001353167.2:c.900del	NP_001340096.1:p.Thr301LeufsTer4
NR_148379.2:n.901del