Canonical Allele Identifier: CA2677932758
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31139424-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139426del , CM000668.2:g.31139426del GRCh38
NC_000006.11:g.31107203del , CM000668.1:g.31107203del GRCh37
NC_000006.10:g.31215182del NCBI36
NG_021348.1:g.29596del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-215del MANE Select ENSP00000259881.9:n.168-215del
ENST00000259881.9:c.168-215del ENSP00000259881.9:n.168-215del
ENST00000479581.5:n.62-215del
ENST00000481450.2:c.-22-215del ENSP00000447158.1:n.-22-215del
ENST00000547221.1:c.24-215del ENSP00000449471.1:n.24-215del
ENST00000552747.1:n.1121del
NM_014068.2:c.168-215del NP_054787.2:n.168-215del
NM_014068.3:c.168-215del MANE Select NP_054787.2:n.168-215del
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