Canonical Allele Identifier: CA627457985

Linked Data

dbSNP Id: rs2074972800

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76540255_76540256insTGG , CM000679.2:g.76540255_76540256insTGG GRCh38
NC_000017.10:g.74536337_74536338insTGG , CM000679.1:g.74536337_74536338insTGG GRCh37
NC_000017.9:g.72047932_72047933insTGG NCBI36
NG_016702.1:g.17670_17671insTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000592014.6:c.74+40_74+41insTGG (PRCD) MANE Select ENSP00000467661.1:n.74+40_74+41insTGG
ENST00000397633.7:n.46-250_46-249insTGG (PRCD)
ENST00000465808.7:n.93-250_93-249insTGG (PRCD)
ENST00000586148.1:c.74+40_74+41insTGG (PRCD) ENSP00000465932.1:n.74+40_74+41insTGG
ENST00000589145.1:c.-52-8563_-52-8562insACC (CYGB) ENSP00000468559.1:n.-52-8563_-52-8562insACC
ENST00000590555.5:n.445-250_445-249insTGG (PRCD)
ENST00000592014.5:c.74+40_74+41insTGG (PRCD) ENSP00000467661.1:n.74+40_74+41insTGG
ENST00000592432.5:n.249-250_249-249insTGG (PRCD)
NM_001077620.2:c.74+40_74+41insTGG (PRCD) NP_001071088.1:n.74+40_74+41insTGG
NR_033357.1:n.249-250_249-249insTGG (PRCD)
XM_011524272.1:c.-52-8563_-52-8562insACC (CYGB) XP_011522574.1:n.-52-8563_-52-8562insACC
XM_011525184.1:c.197+40_197+41insTGG (PRCD) XP_011523486.1:n.197+40_197+41insTGG
XM_017024116.1:c.-52-8563_-52-8562insACC (CYGB) XP_016879605.1:n.-52-8563_-52-8562insACC
XM_017025013.1:c.74+40_74+41insTGG (PRCD) XP_016880502.1:n.74+40_74+41insTGG
XM_017025014.1:c.74+40_74+41insTGG (PRCD) XP_016880503.1:n.74+40_74+41insTGG
XM_017025015.1:c.74+40_74+41insTGG (PRCD) XP_016880504.1:n.74+40_74+41insTGG
NM_001077620.3:c.74+40_74+41insTGG (PRCD) MANE Select NP_001071088.1:n.74+40_74+41insTGG
NR_033357.2:n.249-250_249-249insTGG (PRCD)