Canonical Allele Identifier: CA2675691733
Gene: DIAPH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573750_141573788dup , CM000667.2:g.141573750_141573788dup GRCh38
NC_000005.9:g.140953317_140953355dup , CM000667.1:g.140953317_140953355dup GRCh37
NC_000005.8:g.140933501_140933539dup NCBI36
NG_011594.1:g.50273_50311dup
NG_011594.2:g.50273_50311dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2067_2105dup MANE Select ENSP00000373706.4:p.Pro702_Pro703insProProProProLeuProGlySerA...
ENST00000647433.1:c.2067_2105dup ENSP00000494675.1:p.Pro702_Pro703insProProProProLeuProGlySerA...
ENST00000253811.10:c.1935_1973dup ENSP00000253811.7:p.Pro658_Pro659insProProProProLeuProGlySerA...
ENST00000389054.7:c.2067_2105dup ENSP00000373706.4:p.Pro702_Pro703insProProProProLeuProGlySerA...
ENST00000389057.9:c.2040_2078dup ENSP00000373709.6:p.Pro693_Pro694insProProProProLeuProGlySerA...
ENST00000398557.8:c.2067_2105dup ENSP00000381565.5:p.Pro702_Pro703insProProProProLeuProGlySerA...
ENST00000518047.5:c.2040_2078dup ENSP00000428268.2:p.Pro693_Pro694insProProProProLeuProGlySerA...
NM_001079812.2:c.2040_2078dup NP_001073280.1:p.Pro693_Pro694insProProProProLeuProGlySerAlaG...
NM_001314007.1:c.2067_2105dup NP_001300936.1:p.Pro702_Pro703insProProProProLeuProGlySerAlaG...
NM_005219.4:c.2067_2105dup NP_005210.3:p.Pro702_Pro703insProProProProLeuProGlySerAlaGlyI...
XM_011537572.1:c.2031_2069dup XP_011535874.1:p.Pro690_Pro691insProProProProLeuProGlySerAlaG...
XM_011537573.1:c.2001_2039dup XP_011535875.1:p.Pro680_Pro681insProProProProLeuProGlySerAlaG...
XM_024454384.1:c.2067_2105dup XP_024310152.1:p.Pro702_Pro703insProProProProLeuProGlySerAlaG...
XM_024454385.1:c.2040_2078dup XP_024310153.1:p.Pro693_Pro694insProProProProLeuProGlySerAlaG...
XM_024454386.1:c.2031_2069dup XP_024310154.1:p.Pro690_Pro691insProProProProLeuProGlySerAlaG...
XM_024454387.1:c.2001_2039dup XP_024310155.1:p.Pro680_Pro681insProProProProLeuProGlySerAlaG...
NM_005219.5:c.2067_2105dup MANE Select NP_005210.3:p.Pro702_Pro703insProProProProLeuProGlySerAlaGlyI...
NM_001079812.3:c.2040_2078dup NP_001073280.1:p.Pro693_Pro694insProProProProLeuProGlySerAlaG...
NM_001314007.2:c.2067_2105dup NP_001300936.1:p.Pro702_Pro703insProProProProLeuProGlySerAlaG...