Canonical Allele Identifier: CA2788487466

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834510_71834511insCC , CM000672.2:g.71834510_71834511insCC	GRCh38
NC_000010.10:g.73594267_73594268insCC , CM000672.1:g.73594267_73594268insCC	GRCh37
NC_000010.9:g.73264273_73264274insCC	NCBI36
NG_009301.1:g.21815_21816insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.41-6_41-5insGG MANE Select	ENSP00000378394.3:n.41-6_41-5insGG
ENST00000394934.4:c.41-6_41-5insGG	ENSP00000378392.2:n.41-6_41-5insGG
ENST00000394936.7:c.41-6_41-5insGG	ENSP00000378394.3:n.41-6_41-5insGG
ENST00000610929.3:c.41-6_41-5insGG	ENSP00000480857.1:n.41-6_41-5insGG
NM_001042465.1:c.41-6_41-5insGG	NP_001035930.1:n.41-6_41-5insGG
NM_001042466.1:c.41-6_41-5insGG	NP_001035931.1:n.41-6_41-5insGG
NM_002778.2:c.41-6_41-5insGG	NP_002769.1:n.41-6_41-5insGG
NM_001042465.2:c.41-6_41-5insGG	NP_001035930.1:n.41-6_41-5insGG
NM_001042466.2:c.41-6_41-5insGG	NP_001035931.1:n.41-6_41-5insGG
NM_002778.3:c.41-6_41-5insGG	NP_002769.1:n.41-6_41-5insGG
NM_002778.4:c.41-6_41-5insGG MANE Select	NP_002769.1:n.41-6_41-5insGG
NM_001042465.3:c.41-6_41-5insGG	NP_001035930.1:n.41-6_41-5insGG
NM_001042466.3:c.41-6_41-5insGG	NP_001035931.1:n.41-6_41-5insGG