Canonical Allele Identifier: CA3478714

Gene: DIAPH1

Linked Data

• dbSNP Id: rs770915828
• ExAC: 5:140903667 C / CA
• MyVariant Identifiers: chr5:g.140903667_140903668insA (hg19) ; chr5:g.141524100_141524101insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524101dup , CM000667.2:g.141524101dup	GRCh38
NC_000005.9:g.140903668dup , CM000667.1:g.140903668dup	GRCh37
NC_000005.8:g.140883852dup	NCBI36
NG_011594.1:g.99955dup
NG_011594.2:g.99955dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000389054.8:c.3661+42dup MANE Select	ENSP00000373706.4:n.3661+42dup
ENST00000448451.6:c.67+42dup	ENSP00000408159.2:n.67+42dup
ENST00000643312.1:c.67+42dup	ENSP00000495191.1:n.67+42dup
ENST00000643718.1:n.141+42dup
ENST00000647433.1:c.3661+42dup	ENSP00000494675.1:n.3661+42dup
ENST00000253811.10:c.3529+42dup	ENSP00000253811.7:n.3529+42dup
ENST00000389054.7:c.3661+42dup	ENSP00000373706.4:n.3661+42dup
ENST00000389057.9:c.3634+42dup	ENSP00000373709.6:n.3634+42dup
ENST00000398557.8:c.3661+42dup	ENSP00000381565.5:n.3661+42dup
ENST00000448451.5:c.197+42dup
ENST00000468119.3:n.182+42dup
ENST00000476339.1:n.613+42dup
ENST00000518047.5:c.3634+42dup	ENSP00000428268.2:n.3634+42dup
NM_001079812.2:c.3634+42dup	NP_001073280.1:n.3634+42dup
NM_001314007.1:c.3661+42dup	NP_001300936.1:n.3661+42dup
NM_005219.4:c.3661+42dup	NP_005210.3:n.3661+42dup
XM_011537572.1:c.3625+42dup	XP_011535874.1:n.3625+42dup
XM_011537573.1:c.3595+42dup	XP_011535875.1:n.3595+42dup
XM_024454384.1:c.3784+42dup	XP_024310152.1:n.3784+42dup
XM_024454385.1:c.3757+42dup	XP_024310153.1:n.3757+42dup
XM_024454386.1:c.3748+42dup	XP_024310154.1:n.3748+42dup
XM_024454387.1:c.3718+42dup	XP_024310155.1:n.3718+42dup
NM_005219.5:c.3661+42dup MANE Select	NP_005210.3:n.3661+42dup
NM_001079812.3:c.3634+42dup	NP_001073280.1:n.3634+42dup
NM_001314007.2:c.3661+42dup	NP_001300936.1:n.3661+42dup