Canonical Allele Identifier: CA2241805561

Gene: DPEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89614803_89614808delinsTAAAAG , CM000678.2:g.89614803_89614808delinsTAAAAG	GRCh38
NC_000016.9:g.89681211_89681216delinsTAAAAG , CM000678.1:g.89681211_89681216delinsTAAAAG	GRCh37
NC_000016.8:g.88208712_88208717delinsTAAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690203.1:c.-107+1084_-107+1089delinsTAAAAG MANE Select	ENSP00000508584.1:n.-107+1084_-107+1089delinsTAAAAG
ENST00000421184.5:c.-107+1399_-107+1404delinsTAAAAG	ENSP00000397313.1:n.-107+1399_-107+1404delinsTAAAAG
ENST00000564281.5:n.47+1084_47+1089delinsTAAAAG
ENST00000565249.5:n.171+1084_171+1089delinsTAAAAG
ENST00000570029.5:c.-107+1399_-107+1404delinsTAAAAG	ENSP00000455916.1:n.-107+1399_-107+1404delinsTAAAAG
NM_001128141.2:c.-107+1399_-107+1404delinsTAAAAG	NP_001121613.1:n.-107+1399_-107+1404delinsTAAAAG
XM_005256285.3:c.-107+1084_-107+1089delinsTAAAAG	XP_005256342.1:n.-107+1084_-107+1089delinsTAAAAG
XM_011522926.1:c.-107+1084_-107+1089delinsTAAAAG	XP_011521228.1:n.-107+1084_-107+1089delinsTAAAAG
XM_005256285.5:c.-107+1084_-107+1089delinsTAAAAG	XP_005256342.1:n.-107+1084_-107+1089delinsTAAAAG
NM_001128141.3:c.-107+1399_-107+1404delinsTAAAAG	NP_001121613.1:n.-107+1399_-107+1404delinsTAAAAG
NM_001389466.1:c.-107+1084_-107+1089delinsTAAAAG MANE Select	NP_001376395.1:n.-107+1084_-107+1089delinsTAAAAG
NM_001389470.1:c.-107+1084_-107+1089delinsTAAAAG	NP_001376399.1:n.-107+1084_-107+1089delinsTAAAAG