Canonical Allele Identifier: CA725750516

Gene: DPEP1

Linked Data

• dbSNP Id: rs1428689066
• gnomAD v3: 16-89614865-TAG-T
• gnomAD v4: 16-89614865-TAG-T
• MyVariant Identifiers: chr16:g.89681274_89681275del (hg19) ; chr16:g.89614866_89614867del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89614871_89614872del , CM000678.2:g.89614871_89614872del	GRCh38
NC_000016.9:g.89681279_89681280del , CM000678.1:g.89681279_89681280del	GRCh37
NC_000016.8:g.88208780_88208781del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690203.1:c.-107+1152_-107+1153del MANE Select	ENSP00000508584.1:n.-107+1152_-107+1153del
ENST00000421184.5:c.-107+1467_-107+1468del	ENSP00000397313.1:n.-107+1467_-107+1468del
ENST00000564281.5:n.47+1152_47+1153del
ENST00000565249.5:n.171+1152_171+1153del
ENST00000570029.5:c.-107+1467_-107+1468del	ENSP00000455916.1:n.-107+1467_-107+1468del
NM_001128141.2:c.-107+1467_-107+1468del	NP_001121613.1:n.-107+1467_-107+1468del
XM_005256285.3:c.-107+1152_-107+1153del	XP_005256342.1:n.-107+1152_-107+1153del
XM_011522926.1:c.-107+1152_-107+1153del	XP_011521228.1:n.-107+1152_-107+1153del
XM_005256285.5:c.-107+1152_-107+1153del	XP_005256342.1:n.-107+1152_-107+1153del
NM_001128141.3:c.-107+1467_-107+1468del	NP_001121613.1:n.-107+1467_-107+1468del
NM_001389466.1:c.-107+1152_-107+1153del MANE Select	NP_001376395.1:n.-107+1152_-107+1153del
NM_001389470.1:c.-107+1152_-107+1153del	NP_001376399.1:n.-107+1152_-107+1153del