Canonical Allele Identifier: CA2687927877

Gene: PDP1

Linked Data

• gnomAD v4: 8-93923523-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923524_93923525dup , CM000670.2:g.93923524_93923525dup	GRCh38
NC_000008.10:g.94935752_94935753dup , CM000670.1:g.94935752_94935753dup	GRCh37
NC_000008.9:g.95004928_95004929dup	NCBI36
NG_012233.1:g.11591_11592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1465_1466dup MANE Select	ENSP00000297598.4:p.Asn489LysfsTer?
ENST00000297598.4:c.1465_1466dup	ENSP00000297598.4:p.Asn489LysfsTer?
ENST00000396200.3:c.1540_1541dup	ENSP00000379503.3:p.Asn514LysfsTer?
ENST00000517764.1:c.1465_1466dup	ENSP00000430380.1:p.Asn489LysfsTer?
ENST00000520728.5:c.1465_1466dup	ENSP00000428317.1:p.Asn489LysfsTer?
NM_001161779.1:c.1540_1541dup	NP_001155251.1:p.Asn514LysfsTer?
NM_001161780.1:c.1540_1541dup	NP_001155252.1:p.Asn514LysfsTer?
NM_001161781.1:c.1465_1466dup	NP_001155253.1:p.Asn489LysfsTer?
NM_018444.3:c.1465_1466dup	NP_060914.2:p.Asn489LysfsTer?
XM_011517135.1:c.1519_1520dup	XP_011515437.1:p.Asn507LysfsTer?
XM_011517136.1:c.1465_1466dup	XP_011515438.1:p.Asn489LysfsTer?
XM_011517137.1:c.1465_1466dup	XP_011515439.1:p.Asn489LysfsTer?
XM_011517135.2:c.1519_1520dup	XP_011515437.1:p.Asn507LysfsTer?
XM_011517136.2:c.1465_1466dup	XP_011515438.1:p.Asn489LysfsTer?
XM_017013588.1:c.1627_1628dup	XP_016869077.1:p.Asn543LysfsTer?
NM_018444.4:c.1465_1466dup MANE Select	NP_060914.2:p.Asn489LysfsTer?
NM_001161780.2:c.1540_1541dup	NP_001155252.1:p.Asn514LysfsTer?
NM_001161781.2:c.1465_1466dup	NP_001155253.1:p.Asn489LysfsTer?
NM_001161779.2:c.1540_1541dup	NP_001155251.1:p.Asn514LysfsTer?