Canonical Allele Identifier: CA2770499615
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139275_31139276insTTTTTTAATGATACGGCGACCACCGAGATCTA , CM000668.2:g.31139275_31139276insTTTTTTAATGATACGGCGACCACCGAGATCTA GRCh38
NC_000006.11:g.31107052_31107053insTTTTTTAATGATACGGCGACCACCGAGATCTA , CM000668.1:g.31107052_31107053insTTTTTTAATGATACGGCGACCACCGAGATCTA GRCh37
NC_000006.10:g.31215031_31215032insTTTTTTAATGATACGGCGACCACCGAGATCTA NCBI36
NG_021348.1:g.29445_29446insTTTTTTAATGATACGGCGACCACCGAGATCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-366_168-365insTTTTTTAATGATACGGCGACCACCGAGATCTA (PSORS1C1) MANE Select ENSP00000259881.9:n.168-366_168-365insTTTTTTAATGATACGGCGACCAC...
ENST00000259845.4:c.-250_-249insTAGATCTCGGTGGTCGCCGTATCATTAAAAAA (PSORS1C2) ENSP00000259845.4:n.-250_-249insTAGATCTCGGTGGTCGCCGTATCATTAAA...
ENST00000259881.9:c.168-366_168-365insTTTTTTAATGATACGGCGACCACCGAGATCTA (PSORS1C1) ENSP00000259881.9:n.168-366_168-365insTTTTTTAATGATACGGCGACCAC...
ENST00000479581.5:n.62-366_62-365insTTTTTTAATGATACGGCGACCACCGAGATCTA (PSORS1C1)
ENST00000481450.2:c.-22-366_-22-365insTTTTTTAATGATACGGCGACCACCGAGATCTA (PSORS1C1) ENSP00000447158.1:n.-22-366_-22-365insTTTTTTAATGATACGGCGACCAC...
ENST00000547221.1:c.24-366_24-365insTTTTTTAATGATACGGCGACCACCGAGATCTA (PSORS1C1) ENSP00000449471.1:n.24-366_24-365insTTTTTTAATGATACGGCGACCACCG...
ENST00000552747.1:n.970_971insTTTTTTAATGATACGGCGACCACCGAGATCTA (PSORS1C1)
NM_014068.2:c.168-366_168-365insTTTTTTAATGATACGGCGACCACCGAGATCTA (PSORS1C1) NP_054787.2:n.168-366_168-365insTTTTTTAATGATACGGCGACCACCGAGAT...
NM_014069.2:c.-250_-249insTAGATCTCGGTGGTCGCCGTATCATTAAAAAA (PSORS1C2) NP_054788.2:n.-250_-249insTAGATCTCGGTGGTCGCCGTATCATTAAAAAA
NM_014068.3:c.168-366_168-365insTTTTTTAATGATACGGCGACCACCGAGATCTA (PSORS1C1) MANE Select NP_054787.2:n.168-366_168-365insTTTTTTAATGATACGGCGACCACCGAGAT...