Canonical Allele Identifier: CA627458004

Gene: PRCD CYGB

Linked Data

• dbSNP Id: rs1567911080
• gnomAD v2: 17-74536346-C-CA
• gnomAD v4: 17-76540264-C-CA
• MyVariant Identifiers: chr17:g.74536346_74536347insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76540265dup , CM000679.2:g.76540265dup	GRCh38
NC_000017.10:g.74536347dup , CM000679.1:g.74536347dup	GRCh37
NC_000017.9:g.72047942dup	NCBI36
NG_016702.1:g.17680dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592014.6:c.74+50dup (PRCD) MANE Select	ENSP00000467661.1:n.74+50dup
ENST00000397633.7:n.46-240dup (PRCD)
ENST00000465808.7:n.93-240dup (PRCD)
ENST00000586148.1:c.74+50dup (PRCD)	ENSP00000465932.1:n.74+50dup
ENST00000589145.1:c.-52-8574dup (CYGB)	ENSP00000468559.1:n.-52-8574dup
ENST00000590555.5:n.445-240dup (PRCD)
ENST00000592014.5:c.74+50dup (PRCD)	ENSP00000467661.1:n.74+50dup
ENST00000592432.5:n.249-240dup (PRCD)
NM_001077620.2:c.74+50dup (PRCD)	NP_001071088.1:n.74+50dup
NR_033357.1:n.249-240dup (PRCD)
XM_011524272.1:c.-52-8574dup (CYGB)	XP_011522574.1:n.-52-8574dup
XM_011525184.1:c.197+50dup (PRCD)	XP_011523486.1:n.197+50dup
XM_017024116.1:c.-52-8574dup (CYGB)	XP_016879605.1:n.-52-8574dup
XM_017025013.1:c.74+50dup (PRCD)	XP_016880502.1:n.74+50dup
XM_017025014.1:c.74+50dup (PRCD)	XP_016880503.1:n.74+50dup
XM_017025015.1:c.74+50dup (PRCD)	XP_016880504.1:n.74+50dup
NM_001077620.3:c.74+50dup (PRCD) MANE Select	NP_001071088.1:n.74+50dup
NR_033357.2:n.249-240dup (PRCD)