Canonical Allele Identifier: CA1619015549
Gene: PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125619_31125622delinsCCTT , CM000668.2:g.31125619_31125622delinsCCTT GRCh38
NC_000006.11:g.31093396_31093399delinsCCTT , CM000668.1:g.31093396_31093399delinsCCTT GRCh37
NC_000006.10:g.31201375_31201378delinsCCTT NCBI36
NG_021348.1:g.15789_15792delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-57_-228-54delinsCCTT MANE Select ENSP00000259881.9:n.-228-57_-228-54delinsCCTT
ENST00000259881.9:c.-228-57_-228-54delinsCCTT ENSP00000259881.9:n.-228-57_-228-54delinsCCTT
ENST00000479581.5:n.61+10728_61+10731delinsCCTT
ENST00000548049.1:n.120-60_120-57delinsCCTT
ENST00000550838.1:n.59-120_59-117delinsCCTT
ENST00000552747.1:n.53+10728_53+10731delinsCCTT
NM_014068.2:c.-228-57_-228-54delinsCCTT NP_054787.2:n.-228-57_-228-54delinsCCTT
NM_014068.3:c.-228-57_-228-54delinsCCTT MANE Select NP_054787.2:n.-228-57_-228-54delinsCCTT