Canonical Allele Identifier: CA3708500

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs761631638
• ExAC: 6:31084943 CTTCCCGAGTGAGAGCCGCTGT / C
• gnomAD v2: 6-31084943-CTTCCCGAGTGAGAGCCGCTGT-C
• gnomAD v3: 6-31117166-CTTCCCGAGTGAGAGCCGCTGT-C
• gnomAD v4: 6-31117166-CTTCCCGAGTGAGAGCCGCTGT-C
• MyVariant Identifiers: chr6:g.31084944_31084964del (hg19) ; chr6:g.31117167_31117187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117182_31117202del , CM000668.2:g.31117182_31117202del	GRCh38
NC_000006.11:g.31084959_31084979del , CM000668.1:g.31084959_31084979del	GRCh37
NC_000006.10:g.31192938_31192958del	NCBI36
NG_021348.1:g.7352_7372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2291_-229+2311del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2291_-229+2311del
ENST00000376288.3:c.428_448del (CDSN) MANE Select	ENSP00000365465.2:p.Asn143_Gly149del
ENST00000259881.9:c.-229+2291_-229+2311del (PSORS1C1)	ENSP00000259881.9:n.-229+2291_-229+2311del
ENST00000376288.2:c.428_448del (CDSN)	ENSP00000365465.2:p.Asn143_Gly149del
ENST00000467107.1:n.2189_2209del (PSORS1C1)
ENST00000479581.5:n.61+2291_61+2311del (PSORS1C1)
ENST00000493289.1:n.160_180del (PSORS1C1)
ENST00000548049.1:n.119+2291_119+2311del (PSORS1C1)
ENST00000550838.1:n.58+2291_58+2311del (PSORS1C1)
ENST00000552747.1:n.53+2291_53+2311del (PSORS1C1)
NM_014068.2:c.-229+2291_-229+2311del (PSORS1C1)	NP_054787.2:n.-229+2291_-229+2311del
NM_001264.5:c.428_448del (CDSN) MANE Select	NP_001255.4:p.Asn143_Gly149del
NM_014068.3:c.-229+2291_-229+2311del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2291_-229+2311del