Canonical Allele Identifier: CA2573138032
Gene: SEC24D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118815641_118815642delinsCA , CM000666.2:g.118815641_118815642delinsCA GRCh38
NC_000004.11:g.119736796_119736797delinsCA , CM000666.1:g.119736796_119736797delinsCA GRCh37
NC_000004.10:g.119956244_119956245delinsCA NCBI36
NG_042032.1:g.25530_25531delinsTG

Transcript Alleles

HGVS Amino-acid Change
NM_014822.4:c.482_483delinsTG MANE Select NP_055637.2:p.Pro161Leu
ENST00000280551.11:c.482_483delinsTG MANE Select ENSP00000280551.6:p.Pro161Leu
NM_001318066.1:c.482_483delinsTG NP_001304995.1:p.Pro161Leu
NM_001318066.2:c.482_483delinsTG NP_001304995.1:p.Pro161Leu
NM_014822.2:c.482_483delinsTG NP_055637.2:p.Pro161Leu
NM_014822.3:c.482_483delinsTG NP_055637.2:p.Pro161Leu
ENST00000280551.10:c.482_483delinsTG ENSP00000280551.6:p.Pro161Leu
ENST00000419654.6:c.-851_-850delinsTG ENSP00000388324.2:n.-851_-850delinsTG
ENST00000503683.1:c.482_483delinsTG ENSP00000426309.1:p.Pro161Leu
ENST00000506622.5:c.589_590delinsTG ENSP00000427249.1:p.Leu197Cys
ENST00000509818.5:c.333_334delinsTG ENSP00000424085.1:p.Phe112Val
ENST00000514561.5:c.*456_*457delinsTG ENSP00000422717.1:n.*456_*457delinsTG
XM_005263378.1:c.482_483delinsTG XP_005263435.1:p.Pro161Leu
XM_005263379.1:c.482_483delinsTG XP_005263436.1:p.Pro161Leu
XM_005263379.3:c.482_483delinsTG XP_005263436.1:p.Pro161Leu
XM_011532435.1:c.482_483delinsTG XP_011530737.1:p.Pro161Leu
XM_011532436.1:c.482_483delinsTG XP_011530738.1:p.Pro161Leu
XM_024454293.1:c.482_483delinsTG XP_024310061.1:p.Pro161Leu