Canonical Allele Identifier: CA1587248461

Gene: DIAPH1

Linked Data

• dbSNP Id: rs2099895601

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141574109_141574126del , CM000667.2:g.141574109_141574126del	GRCh38
NC_000005.9:g.140953676_140953693del , CM000667.1:g.140953676_140953693del	GRCh37
NC_000005.8:g.140933860_140933877del	NCBI36
NG_011594.1:g.49937_49954del
NG_011594.2:g.49937_49954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.1731_1748del MANE Select	ENSP00000373706.4:p.Ser578_Pro583del
ENST00000647330.1:c.1708_1725del	ENSP00000494308.1:n.1708_1725del
ENST00000647433.1:c.1731_1748del	ENSP00000494675.1:p.Ser578_Pro583del
ENST00000253811.10:c.1599_1616del	ENSP00000253811.7:p.Ser534_Pro539del
ENST00000389054.7:c.1731_1748del	ENSP00000373706.4:p.Ser578_Pro583del
ENST00000389057.9:c.1704_1721del	ENSP00000373709.6:p.Ser569_Pro574del
ENST00000398557.8:c.1731_1748del	ENSP00000381565.5:p.Ser578_Pro583del
ENST00000518047.5:c.1704_1721del	ENSP00000428268.2:p.Ser569_Pro574del
NM_001079812.2:c.1704_1721del	NP_001073280.1:p.Ser569_Pro574del
NM_001314007.1:c.1731_1748del	NP_001300936.1:p.Ser578_Pro583del
NM_005219.4:c.1731_1748del	NP_005210.3:p.Ser578_Pro583del
XM_011537572.1:c.1695_1712del	XP_011535874.1:p.Ser566_Pro571del
XM_011537573.1:c.1665_1682del	XP_011535875.1:p.Ser556_Pro561del
XM_024454384.1:c.1731_1748del	XP_024310152.1:p.Ser578_Pro583del
XM_024454385.1:c.1704_1721del	XP_024310153.1:p.Ser569_Pro574del
XM_024454386.1:c.1695_1712del	XP_024310154.1:p.Ser566_Pro571del
XM_024454387.1:c.1665_1682del	XP_024310155.1:p.Ser556_Pro561del
NM_005219.5:c.1731_1748del MANE Select	NP_005210.3:p.Ser578_Pro583del
NM_001079812.3:c.1704_1721del	NP_001073280.1:p.Ser569_Pro574del
NM_001314007.2:c.1731_1748del	NP_001300936.1:p.Ser578_Pro583del