Canonical Allele Identifier: CA2677932196

Gene: PSORS1C1 PSORS1C2

Linked Data

• gnomAD v4: 6-31139180-GCTGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139181_31139185del , CM000668.2:g.31139181_31139185del	GRCh38
NC_000006.11:g.31106958_31106962del , CM000668.1:g.31106958_31106962del	GRCh37
NC_000006.10:g.31214937_31214941del	NCBI36
NG_021348.1:g.29351_29355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+402_167+406del (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+402_167+406del
ENST00000259845.4:c.-159_-155del (PSORS1C2)	ENSP00000259845.4:n.-159_-155del
ENST00000259881.9:c.167+402_167+406del (PSORS1C1)	ENSP00000259881.9:n.167+402_167+406del
ENST00000479581.5:n.62-460_62-456del (PSORS1C1)
ENST00000481450.2:c.-22-460_-22-456del (PSORS1C1)	ENSP00000447158.1:n.-22-460_-22-456del
ENST00000547221.1:c.23+402_23+406del (PSORS1C1)	ENSP00000449471.1:n.23+402_23+406del
ENST00000552747.1:n.876_880del (PSORS1C1)
NM_014068.2:c.167+402_167+406del (PSORS1C1)	NP_054787.2:n.167+402_167+406del
NM_014069.2:c.-159_-155del (PSORS1C2)	NP_054788.2:n.-159_-155del
NM_014068.3:c.167+402_167+406del (PSORS1C1) MANE Select	NP_054787.2:n.167+402_167+406del