Canonical Allele Identifier: CA1619012309

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117721_31117725delinsCTTTG , CM000668.2:g.31117721_31117725delinsCTTTG	GRCh38
NC_000006.11:g.31085498_31085502delinsCTTTG , CM000668.1:g.31085498_31085502delinsCTTTG	GRCh37
NC_000006.10:g.31193477_31193481delinsCTTTG	NCBI36
NG_012192.1:g.7722_7726delinsCAAAG
NG_021348.1:g.7891_7895delinsCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2830_-229+2834delinsCTTTG (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2830_-229+2834delinsCTTTG
ENST00000376288.3:c.86-196_86-192delinsCAAAG (CDSN) MANE Select	ENSP00000365465.2:n.86-196_86-192delinsCAAAG
ENST00000259881.9:c.-229+2830_-229+2834delinsCTTTG (PSORS1C1)	ENSP00000259881.9:n.-229+2830_-229+2834delinsCTTTG
ENST00000376288.2:c.86-196_86-192delinsCAAAG (CDSN)	ENSP00000365465.2:n.86-196_86-192delinsCAAAG
ENST00000467107.1:n.2728_2732delinsCTTTG (PSORS1C1)
ENST00000479581.5:n.61+2830_61+2834delinsCTTTG (PSORS1C1)
ENST00000548049.1:n.119+2830_119+2834delinsCTTTG (PSORS1C1)
ENST00000550838.1:n.58+2830_58+2834delinsCTTTG (PSORS1C1)
ENST00000552747.1:n.53+2830_53+2834delinsCTTTG (PSORS1C1)
NM_001264.4:c.86-196_86-192delinsCAAAG (CDSN)	NP_001255.3:n.86-196_86-192delinsCAAAG
NM_014068.2:c.-229+2830_-229+2834delinsCTTTG (PSORS1C1)	NP_054787.2:n.-229+2830_-229+2834delinsCTTTG
NM_001264.5:c.86-196_86-192delinsCAAAG (CDSN) MANE Select	NP_001255.4:n.86-196_86-192delinsCAAAG
NM_014068.3:c.-229+2830_-229+2834delinsCTTTG (PSORS1C1) MANE Select	NP_054787.2:n.-229+2830_-229+2834delinsCTTTG