Canonical Allele Identifier: CA2677928320

Gene: PSORS1C1 CDSN

Linked Data

• gnomAD v4: 6-31117627-C-CTGCGCTCTGCTTGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117627_31117628insTGCGCTCTGCTTGGGAG , CM000668.2:g.31117627_31117628insTGCGCTCTGCTTGGGAG	GRCh38
NC_000006.11:g.31085404_31085405insTGCGCTCTGCTTGGGAG , CM000668.1:g.31085404_31085405insTGCGCTCTGCTTGGGAG	GRCh37
NC_000006.10:g.31193383_31193384insTGCGCTCTGCTTGGGAG	NCBI36
NG_012192.1:g.7819_7820insCTCCCAAGCAGAGCGCA
NG_021348.1:g.7797_7798insTGCGCTCTGCTTGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2736_-229+2737insTGCGCTCTGCTTGGGAG (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2736_-229+2737insTGCGCTCTGCTTGGGAG
ENST00000376288.3:c.86-99_86-98insCTCCCAAGCAGAGCGCA (CDSN) MANE Select	ENSP00000365465.2:n.86-99_86-98insCTCCCAAGCAGAGCGCA
ENST00000259881.9:c.-229+2736_-229+2737insTGCGCTCTGCTTGGGAG (PSORS1C1)	ENSP00000259881.9:n.-229+2736_-229+2737insTGCGCTCTGCTTGGGAG
ENST00000376288.2:c.86-99_86-98insCTCCCAAGCAGAGCGCA (CDSN)	ENSP00000365465.2:n.86-99_86-98insCTCCCAAGCAGAGCGCA
ENST00000467107.1:n.2634_2635insTGCGCTCTGCTTGGGAG (PSORS1C1)
ENST00000479581.5:n.61+2736_61+2737insTGCGCTCTGCTTGGGAG (PSORS1C1)
ENST00000548049.1:n.119+2736_119+2737insTGCGCTCTGCTTGGGAG (PSORS1C1)
ENST00000550838.1:n.58+2736_58+2737insTGCGCTCTGCTTGGGAG (PSORS1C1)
ENST00000552747.1:n.53+2736_53+2737insTGCGCTCTGCTTGGGAG (PSORS1C1)
NM_001264.4:c.86-99_86-98insCTCCCAAGCAGAGCGCA (CDSN)	NP_001255.3:n.86-99_86-98insCTCCCAAGCAGAGCGCA
NM_014068.2:c.-229+2736_-229+2737insTGCGCTCTGCTTGGGAG (PSORS1C1)	NP_054787.2:n.-229+2736_-229+2737insTGCGCTCTGCTTGGGAG
NM_001264.5:c.86-99_86-98insCTCCCAAGCAGAGCGCA (CDSN) MANE Select	NP_001255.4:n.86-99_86-98insCTCCCAAGCAGAGCGCA
NM_014068.3:c.-229+2736_-229+2737insTGCGCTCTGCTTGGGAG (PSORS1C1) MANE Select	NP_054787.2:n.-229+2736_-229+2737insTGCGCTCTGCTTGGGAG