Canonical Allele Identifier: CA913188210
Community Standard Title: NM_004415.4(DSP):c.5353_5355delinsAAA (p.Glu1785Lys)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7581543_7581545delinsAAA , CM000668.2:g.7581543_7581545delinsAAA GRCh38
NC_000006.11:g.7581776_7581778delinsAAA , CM000668.1:g.7581776_7581778delinsAAA GRCh37
NC_000006.10:g.7526775_7526777delinsAAA NCBI36
NG_008803.1:g.44907_44909delinsAAA , LRG_423:g.44907_44909delinsAAA

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.5353_5355delinsAAA MANE Select NP_004406.2:p.Glu1785Lys
ENST00000379802.8:c.5353_5355delinsAAA MANE Select ENSP00000369129.3:p.Glu1785Lys
NM_001008844.1:c.3583-1099_3583-1097delinsAAA NP_001008844.1:n.3583-1099_3583-1097delinsAAA
NM_001008844.2:c.3583-1099_3583-1097delinsAAA NP_001008844.1:n.3583-1099_3583-1097delinsAAA
NM_001008844.3:c.3583-1099_3583-1097delinsAAA NP_001008844.1:n.3583-1099_3583-1097delinsAAA
NM_001319034.1:c.4051-1099_4051-1097delinsAAA NP_001305963.1:n.4051-1099_4051-1097delinsAAA
NM_001319034.2:c.4051-1099_4051-1097delinsAAA NP_001305963.1:n.4051-1099_4051-1097delinsAAA
NM_004415.2:c.5353_5355delinsAAA , LRG_423t1:c.5353_5355delinsAAA NP_004406.2:p.Glu1785Lys
NM_004415.3:c.5353_5355delinsAAA NP_004406.2:p.Glu1785Lys
ENST00000379802.7:c.5353_5355delinsAAA ENSP00000369129.3:p.Glu1785Lys
ENST00000418664.2:c.3583-1099_3583-1097delinsAAA ENSP00000396591.2:n.3583-1099_3583-1097delinsAAA
ENST00000710359.1:c.4051-1099_4051-1097delinsAAA ENSP00000518230.1:n.4051-1099_4051-1097delinsAAA
XM_011514323.1:c.4051-1099_4051-1097delinsAAA XP_011512625.1:n.4051-1099_4051-1097delinsAAA