Canonical Allele Identifier: CA2770499711
Gene: PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139513_31139514insCC , CM000668.2:g.31139513_31139514insCC GRCh38
NC_000006.11:g.31107290_31107291insCC , CM000668.1:g.31107290_31107291insCC GRCh37
NC_000006.10:g.31215269_31215270insCC NCBI36
NG_021348.1:g.29683_29684insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-128_168-127insCC MANE Select ENSP00000259881.9:n.168-128_168-127insCC
ENST00000259881.9:c.168-128_168-127insCC ENSP00000259881.9:n.168-128_168-127insCC
ENST00000479581.5:n.62-128_62-127insCC
ENST00000481450.2:c.-22-128_-22-127insCC ENSP00000447158.1:n.-22-128_-22-127insCC
ENST00000547221.1:c.24-128_24-127insCC ENSP00000449471.1:n.24-128_24-127insCC
NM_014068.2:c.168-128_168-127insCC NP_054787.2:n.168-128_168-127insCC
NM_014068.3:c.168-128_168-127insCC MANE Select NP_054787.2:n.168-128_168-127insCC