Canonical Allele Identifier: CA1087441907
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1773340867
gnomAD v3: 6-31139542-CCCG-C
gnomAD v4: 6-31139542-CCCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139544_31139546del , CM000668.2:g.31139544_31139546del GRCh38
NC_000006.11:g.31107321_31107323del , CM000668.1:g.31107321_31107323del GRCh37
NC_000006.10:g.31215300_31215302del NCBI36
NG_021348.1:g.29714_29716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-97_168-95del MANE Select ENSP00000259881.9:n.168-97_168-95del
ENST00000259881.9:c.168-97_168-95del ENSP00000259881.9:n.168-97_168-95del
ENST00000479581.5:n.62-97_62-95del
ENST00000481450.2:c.-22-97_-22-95del ENSP00000447158.1:n.-22-97_-22-95del
ENST00000547221.1:c.24-97_24-95del ENSP00000449471.1:n.24-97_24-95del
NM_014068.2:c.168-97_168-95del NP_054787.2:n.168-97_168-95del
NM_014068.3:c.168-97_168-95del MANE Select NP_054787.2:n.168-97_168-95del
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