Canonical Allele Identifier: CA286587620

Gene: DPEP1

Linked Data

• dbSNP Id: rs558618015
• gnomAD v3: 16-89614795-CA-C
• gnomAD v4: 16-89614795-CA-C
• MyVariant Identifiers: chr16:g.89681204del (hg19) ; chr16:g.89614796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89614802del , CM000678.2:g.89614802del	GRCh38
NC_000016.9:g.89681210del , CM000678.1:g.89681210del	GRCh37
NC_000016.8:g.88208711del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690203.1:c.-107+1083del MANE Select	ENSP00000508584.1:n.-107+1083del
ENST00000421184.5:c.-107+1398del	ENSP00000397313.1:n.-107+1398del
ENST00000564281.5:n.47+1083del
ENST00000565249.5:n.171+1083del
ENST00000570029.5:c.-107+1398del	ENSP00000455916.1:n.-107+1398del
NM_001128141.2:c.-107+1398del	NP_001121613.1:n.-107+1398del
XM_005256285.3:c.-107+1083del	XP_005256342.1:n.-107+1083del
XM_011522926.1:c.-107+1083del	XP_011521228.1:n.-107+1083del
XM_005256285.5:c.-107+1083del	XP_005256342.1:n.-107+1083del
NM_001128141.3:c.-107+1398del	NP_001121613.1:n.-107+1398del
NM_001389466.1:c.-107+1083del MANE Select	NP_001376395.1:n.-107+1083del
NM_001389470.1:c.-107+1083del	NP_001376399.1:n.-107+1083del