Canonical Allele Identifier: CA668091238

Gene: PSAP

Linked Data

• dbSNP Id: rs1424459975
• MyVariant Identifiers: chr10:g.73594458_73594459insAG (hg19) ; chr10:g.71834701_71834702insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834703_71834704dup , CM000672.2:g.71834703_71834704dup	GRCh38
NC_000010.10:g.73594460_73594461dup , CM000672.1:g.73594460_73594461dup	GRCh37
NC_000010.9:g.73264466_73264467dup	NCBI36
NG_009301.1:g.21623_21624dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.41-198_41-197dup MANE Select	ENSP00000378394.3:n.41-198_41-197dup
ENST00000394934.4:c.41-198_41-197dup	ENSP00000378392.2:n.41-198_41-197dup
ENST00000394936.7:c.41-198_41-197dup	ENSP00000378394.3:n.41-198_41-197dup
ENST00000610929.3:c.41-198_41-197dup	ENSP00000480857.1:n.41-198_41-197dup
NM_001042465.1:c.41-198_41-197dup	NP_001035930.1:n.41-198_41-197dup
NM_001042466.1:c.41-198_41-197dup	NP_001035931.1:n.41-198_41-197dup
NM_002778.2:c.41-198_41-197dup	NP_002769.1:n.41-198_41-197dup
NM_001042465.2:c.41-198_41-197dup	NP_001035930.1:n.41-198_41-197dup
NM_001042466.2:c.41-198_41-197dup	NP_001035931.1:n.41-198_41-197dup
NM_002778.3:c.41-198_41-197dup	NP_002769.1:n.41-198_41-197dup
NM_002778.4:c.41-198_41-197dup MANE Select	NP_002769.1:n.41-198_41-197dup
NM_001042465.3:c.41-198_41-197dup	NP_001035930.1:n.41-198_41-197dup
NM_001042466.3:c.41-198_41-197dup	NP_001035931.1:n.41-198_41-197dup