Canonical Allele Identifier: CA2007047207

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345500_126345503delinsGTGA , CM000673.2:g.126345500_126345503delinsGTGA GRCh38
NC_000011.9:g.126215395_126215398delinsGTGA , CM000673.1:g.126215395_126215398delinsGTGA GRCh37
NC_000011.8:g.125720605_125720608delinsGTGA NCBI36
NG_053153.1:g.47200_47203delinsGTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.901_904delinsGTGA (DCPS) MANE Select ENSP00000263579.4:p.Val301=
ENST00000648516.1:c.622_625delinsGTGA (DCPS) ENSP00000497684.1:p.Val208=
ENST00000263579.4:c.901_904delinsGTGA (DCPS) ENSP00000263579.4:p.Val301=
ENST00000529149.1:n.2251_2254delinsGTGA (DCPS)
ENST00000530860.5:n.412_415delinsGTGA (DCPS)
NM_014026.4:c.901_904delinsGTGA (DCPS) NP_054745.1:p.Val301=
NR_033839.1:n.147-3181_147-3178delinsTCAC (GSEC)
XM_011542778.1:c.922_925delinsGTGA (DCPS) XP_011541080.1:p.Val308=
XM_011542779.1:c.622_625delinsGTGA (DCPS) XP_011541081.1:p.Val208=
XM_011542780.1:c.622_625delinsGTGA (DCPS) XP_011541082.1:p.Val208=
NM_001350236.1:c.922_925delinsGTGA (DCPS) NP_001337165.1:p.Val308=
NM_014026.5:c.901_904delinsGTGA (DCPS) NP_054745.1:p.Val301=
NM_014026.6:c.901_904delinsGTGA (DCPS) MANE Select NP_054745.1:p.Val301=
NM_001350236.2:c.922_925delinsGTGA (DCPS) NP_001337165.1:p.Val308=