Canonical Allele Identifier: CA104642853
Community Standard Title: NM_014822.4(SEC24D):c.2868+99_2868+101del
Gene: SEC24D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118731220_118731222del , CM000666.2:g.118731220_118731222del GRCh38
NC_000004.11:g.119652375_119652377del , CM000666.1:g.119652375_119652377del GRCh37
NC_000004.10:g.119871823_119871825del NCBI36
NG_042032.1:g.109955_109957del

Transcript Alleles

HGVS Amino-acid Change
NM_014822.4:c.2868+99_2868+101del MANE Select NP_055637.2:n.2868+99_2868+101del
ENST00000280551.11:c.2868+99_2868+101del MANE Select ENSP00000280551.6:n.2868+99_2868+101del
NM_001318066.1:c.2871+99_2871+101del NP_001304995.1:n.2871+99_2871+101del
NM_001318066.2:c.2871+99_2871+101del NP_001304995.1:n.2871+99_2871+101del
NM_014822.2:c.2868+99_2868+101del NP_055637.2:n.2868+99_2868+101del
NM_014822.3:c.2868+99_2868+101del NP_055637.2:n.2868+99_2868+101del
ENST00000280551.10:c.2868+99_2868+101del ENSP00000280551.6:n.2868+99_2868+101del
ENST00000505134.5:n.2999+99_2999+101del
ENST00000511481.5:c.1761+99_1761+101del ENSP00000425491.1:n.1761+99_1761+101del
ENST00000511715.1:n.874_876del
XM_005263378.1:c.2871+99_2871+101del XP_005263435.1:n.2871+99_2871+101del
XM_005263379.1:c.2871+99_2871+101del XP_005263436.1:n.2871+99_2871+101del
XM_005263379.3:c.2871+99_2871+101del XP_005263436.1:n.2871+99_2871+101del
XM_011532435.1:c.2871+99_2871+101del XP_011530737.1:n.2871+99_2871+101del
XM_011532437.1:c.1536+99_1536+101del XP_011530739.1:n.1536+99_1536+101del
XM_017008875.1:c.1536+99_1536+101del XP_016864364.1:n.1536+99_1536+101del
XM_024454293.1:c.2868+99_2868+101del XP_024310061.1:n.2868+99_2868+101del