Canonical Allele Identifier: CA2241805533

Gene: DPEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89614776_89614778delinsCAG , CM000678.2:g.89614776_89614778delinsCAG	GRCh38
NC_000016.9:g.89681184_89681186delinsCAG , CM000678.1:g.89681184_89681186delinsCAG	GRCh37
NC_000016.8:g.88208685_88208687delinsCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690203.1:c.-107+1057_-107+1059delinsCAG MANE Select	ENSP00000508584.1:n.-107+1057_-107+1059delinsCAG
ENST00000421184.5:c.-107+1372_-107+1374delinsCAG	ENSP00000397313.1:n.-107+1372_-107+1374delinsCAG
ENST00000564281.5:n.47+1057_47+1059delinsCAG
ENST00000565249.5:n.171+1057_171+1059delinsCAG
ENST00000570029.5:c.-107+1372_-107+1374delinsCAG	ENSP00000455916.1:n.-107+1372_-107+1374delinsCAG
NM_001128141.2:c.-107+1372_-107+1374delinsCAG	NP_001121613.1:n.-107+1372_-107+1374delinsCAG
XM_005256285.3:c.-107+1057_-107+1059delinsCAG	XP_005256342.1:n.-107+1057_-107+1059delinsCAG
XM_011522926.1:c.-107+1057_-107+1059delinsCAG	XP_011521228.1:n.-107+1057_-107+1059delinsCAG
XM_005256285.5:c.-107+1057_-107+1059delinsCAG	XP_005256342.1:n.-107+1057_-107+1059delinsCAG
NM_001128141.3:c.-107+1372_-107+1374delinsCAG	NP_001121613.1:n.-107+1372_-107+1374delinsCAG
NM_001389466.1:c.-107+1057_-107+1059delinsCAG MANE Select	NP_001376395.1:n.-107+1057_-107+1059delinsCAG
NM_001389470.1:c.-107+1057_-107+1059delinsCAG	NP_001376399.1:n.-107+1057_-107+1059delinsCAG