Canonical Allele Identifier: CA823854792

Gene: PSORS1C1

Linked Data

• dbSNP Id: rs1463582913
• gnomAD v3: 6-31125619-CCTT-C
• gnomAD v4: 6-31125619-CCTT-C
• MyVariant Identifiers: chr6:g.31093397_31093399del (hg19) ; chr6:g.31125620_31125622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125622_31125624del , CM000668.2:g.31125622_31125624del	GRCh38
NC_000006.11:g.31093399_31093401del , CM000668.1:g.31093399_31093401del	GRCh37
NC_000006.10:g.31201378_31201380del	NCBI36
NG_021348.1:g.15792_15794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-228-54_-228-52del MANE Select	ENSP00000259881.9:n.-228-54_-228-52del
ENST00000259881.9:c.-228-54_-228-52del	ENSP00000259881.9:n.-228-54_-228-52del
ENST00000479581.5:n.61+10731_61+10733del
ENST00000548049.1:n.120-57_120-55del
ENST00000550838.1:n.59-117_59-115del
ENST00000552747.1:n.53+10731_53+10733del
NM_014068.2:c.-228-54_-228-52del	NP_054787.2:n.-228-54_-228-52del
NM_014068.3:c.-228-54_-228-52del MANE Select	NP_054787.2:n.-228-54_-228-52del