Canonical Allele Identifier: CA3056994
Community Standard Title: NM_014822.4(SEC24D):c.2377+23_2377+44dup
Gene: SEC24D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118739105_118739126dup , CM000666.2:g.118739105_118739126dup GRCh38
NC_000004.11:g.119660260_119660281dup , CM000666.1:g.119660260_119660281dup GRCh37
NC_000004.10:g.119879708_119879729dup NCBI36
NG_042032.1:g.102046_102067dup

Transcript Alleles

HGVS Amino-acid Change
NM_014822.4:c.2377+23_2377+44dup MANE Select NP_055637.2:n.2377+23_2377+44dup
ENST00000280551.11:c.2377+23_2377+44dup MANE Select ENSP00000280551.6:n.2377+23_2377+44dup
NM_001318066.1:c.2380+23_2380+44dup NP_001304995.1:n.2380+23_2380+44dup
NM_001318066.2:c.2380+23_2380+44dup NP_001304995.1:n.2380+23_2380+44dup
NM_014822.2:c.2377+23_2377+44dup NP_055637.2:n.2377+23_2377+44dup
NM_014822.3:c.2377+23_2377+44dup NP_055637.2:n.2377+23_2377+44dup
ENST00000280551.10:c.2377+23_2377+44dup ENSP00000280551.6:n.2377+23_2377+44dup
ENST00000419654.6:c.1045+23_1045+44dup ENSP00000388324.2:n.1045+23_1045+44dup
ENST00000502526.1:n.75+23_75+44dup
ENST00000505134.5:n.1665+23_1665+44dup
ENST00000511481.5:c.1270+23_1270+44dup ENSP00000425491.1:n.1270+23_1270+44dup
ENST00000514561.5:c.*2784+23_*2784+44dup ENSP00000422717.1:n.*2784+23_*2784+44dup
XM_005263378.1:c.2380+23_2380+44dup XP_005263435.1:n.2380+23_2380+44dup
XM_005263379.1:c.2380+23_2380+44dup XP_005263436.1:n.2380+23_2380+44dup
XM_005263379.3:c.2380+23_2380+44dup XP_005263436.1:n.2380+23_2380+44dup
XM_011532435.1:c.2380+23_2380+44dup XP_011530737.1:n.2380+23_2380+44dup
XM_011532436.1:c.2380+23_2380+44dup XP_011530738.1:n.2380+23_2380+44dup
XM_011532437.1:c.1045+23_1045+44dup XP_011530739.1:n.1045+23_1045+44dup
XM_017008875.1:c.1045+23_1045+44dup XP_016864364.1:n.1045+23_1045+44dup
XM_024454293.1:c.2377+23_2377+44dup XP_024310061.1:n.2377+23_2377+44dup