Canonical Allele Identifier: CA668090849

Gene: PSAP

Linked Data

• dbSNP Id: rs1390503989
• gnomAD v3: 10-71834284-GCT-G
• gnomAD v4: 10-71834284-GCT-G
• MyVariant Identifiers: chr10:g.73594042_73594043del (hg19) ; chr10:g.71834285_71834286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834287_71834288del , CM000672.2:g.71834287_71834288del	GRCh38
NC_000010.10:g.73594044_73594045del , CM000672.1:g.73594044_73594045del	GRCh37
NC_000010.9:g.73264050_73264051del	NCBI36
NG_009301.1:g.22040_22041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.174+86_174+87del MANE Select	ENSP00000378394.3:n.174+86_174+87del
ENST00000394934.4:c.174+86_174+87del	ENSP00000378392.2:n.174+86_174+87del
ENST00000394936.7:c.174+86_174+87del	ENSP00000378394.3:n.174+86_174+87del
ENST00000610929.3:c.174+86_174+87del	ENSP00000480857.1:n.174+86_174+87del
NM_001042465.1:c.174+86_174+87del	NP_001035930.1:n.174+86_174+87del
NM_001042466.1:c.174+86_174+87del	NP_001035931.1:n.174+86_174+87del
NM_002778.2:c.174+86_174+87del	NP_002769.1:n.174+86_174+87del
NM_001042465.2:c.174+86_174+87del	NP_001035930.1:n.174+86_174+87del
NM_001042466.2:c.174+86_174+87del	NP_001035931.1:n.174+86_174+87del
NM_002778.3:c.174+86_174+87del	NP_002769.1:n.174+86_174+87del
NM_002778.4:c.174+86_174+87del MANE Select	NP_002769.1:n.174+86_174+87del
NM_001042465.3:c.174+86_174+87del	NP_001035930.1:n.174+86_174+87del
NM_001042466.3:c.174+86_174+87del	NP_001035931.1:n.174+86_174+87del