Canonical Allele Identifier: CA209472285

Gene: PSAP

Linked Data

• dbSNP Id: rs947594880
• gnomAD v2: 10-73594332-C-CA
• gnomAD v3: 10-71834575-C-CA
• gnomAD v4: 10-71834575-C-CA
• MyVariant Identifiers: chr10:g.73594332_73594333insA (hg19) ; chr10:g.71834575_71834576insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834576dup , CM000672.2:g.71834576dup	GRCh38
NC_000010.10:g.73594333dup , CM000672.1:g.73594333dup	GRCh37
NC_000010.9:g.73264339dup	NCBI36
NG_009301.1:g.21750dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.41-71dup MANE Select	ENSP00000378394.3:n.41-71dup
ENST00000394934.4:c.41-71dup	ENSP00000378392.2:n.41-71dup
ENST00000394936.7:c.41-71dup	ENSP00000378394.3:n.41-71dup
ENST00000610929.3:c.41-71dup	ENSP00000480857.1:n.41-71dup
NM_001042465.1:c.41-71dup	NP_001035930.1:n.41-71dup
NM_001042466.1:c.41-71dup	NP_001035931.1:n.41-71dup
NM_002778.2:c.41-71dup	NP_002769.1:n.41-71dup
NM_001042465.2:c.41-71dup	NP_001035930.1:n.41-71dup
NM_001042466.2:c.41-71dup	NP_001035931.1:n.41-71dup
NM_002778.3:c.41-71dup	NP_002769.1:n.41-71dup
NM_002778.4:c.41-71dup MANE Select	NP_002769.1:n.41-71dup
NM_001042465.3:c.41-71dup	NP_001035930.1:n.41-71dup
NM_001042466.3:c.41-71dup	NP_001035931.1:n.41-71dup