Canonical Allele Identifier: CA2675688172

Gene: DIAPH1

Linked Data

• gnomAD v4: 5-141524023-GGATGCAGGGACTAAAAAGATGCTTAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524025_141524051del , CM000667.2:g.141524025_141524051del	GRCh38
NC_000005.9:g.140903592_140903618del , CM000667.1:g.140903592_140903618del	GRCh37
NC_000005.8:g.140883776_140883802del	NCBI36
NG_011594.1:g.100006_100032del
NG_011594.2:g.100006_100032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3661+93_3661+119del MANE Select	ENSP00000373706.4:n.3661+93_3661+119del
ENST00000448451.6:c.67+93_67+119del	ENSP00000408159.2:n.67+93_67+119del
ENST00000643312.1:c.67+93_67+119del	ENSP00000495191.1:n.67+93_67+119del
ENST00000643718.1:n.141+93_141+119del
ENST00000647433.1:c.3661+93_3661+119del	ENSP00000494675.1:n.3661+93_3661+119del
ENST00000253811.10:c.3529+93_3529+119del	ENSP00000253811.7:n.3529+93_3529+119del
ENST00000389054.7:c.3661+93_3661+119del	ENSP00000373706.4:n.3661+93_3661+119del
ENST00000389057.9:c.3634+93_3634+119del	ENSP00000373709.6:n.3634+93_3634+119del
ENST00000398557.8:c.3661+93_3661+119del	ENSP00000381565.5:n.3661+93_3661+119del
ENST00000448451.5:c.197+93_197+119del
ENST00000468119.3:n.182+93_182+119del
ENST00000476339.1:n.613+93_613+119del
ENST00000518047.5:c.3634+93_3634+119del	ENSP00000428268.2:n.3634+93_3634+119del
NM_001079812.2:c.3634+93_3634+119del	NP_001073280.1:n.3634+93_3634+119del
NM_001314007.1:c.3661+93_3661+119del	NP_001300936.1:n.3661+93_3661+119del
NM_005219.4:c.3661+93_3661+119del	NP_005210.3:n.3661+93_3661+119del
XM_011537572.1:c.3625+93_3625+119del	XP_011535874.1:n.3625+93_3625+119del
XM_011537573.1:c.3595+93_3595+119del	XP_011535875.1:n.3595+93_3595+119del
XM_024454384.1:c.3784+93_3784+119del	XP_024310152.1:n.3784+93_3784+119del
XM_024454385.1:c.3757+93_3757+119del	XP_024310153.1:n.3757+93_3757+119del
XM_024454386.1:c.3748+93_3748+119del	XP_024310154.1:n.3748+93_3748+119del
XM_024454387.1:c.3718+93_3718+119del	XP_024310155.1:n.3718+93_3718+119del
NM_005219.5:c.3661+93_3661+119del MANE Select	NP_005210.3:n.3661+93_3661+119del
NM_001079812.3:c.3634+93_3634+119del	NP_001073280.1:n.3634+93_3634+119del
NM_001314007.2:c.3661+93_3661+119del	NP_001300936.1:n.3661+93_3661+119del