Canonical Allele Identifier: CA2788487441

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834337_71834338insCTTT , CM000672.2:g.71834337_71834338insCTTT	GRCh38
NC_000010.10:g.73594094_73594095insCTTT , CM000672.1:g.73594094_73594095insCTTT	GRCh37
NC_000010.9:g.73264100_73264101insCTTT	NCBI36
NG_009301.1:g.21989_21990insAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.174+35_174+36insAAGA MANE Select	ENSP00000378394.3:n.174+35_174+36insAAGA
ENST00000394934.4:c.174+35_174+36insAAGA	ENSP00000378392.2:n.174+35_174+36insAAGA
ENST00000394936.7:c.174+35_174+36insAAGA	ENSP00000378394.3:n.174+35_174+36insAAGA
ENST00000610929.3:c.174+35_174+36insAAGA	ENSP00000480857.1:n.174+35_174+36insAAGA
NM_001042465.1:c.174+35_174+36insAAGA	NP_001035930.1:n.174+35_174+36insAAGA
NM_001042466.1:c.174+35_174+36insAAGA	NP_001035931.1:n.174+35_174+36insAAGA
NM_002778.2:c.174+35_174+36insAAGA	NP_002769.1:n.174+35_174+36insAAGA
NM_001042465.2:c.174+35_174+36insAAGA	NP_001035930.1:n.174+35_174+36insAAGA
NM_001042466.2:c.174+35_174+36insAAGA	NP_001035931.1:n.174+35_174+36insAAGA
NM_002778.3:c.174+35_174+36insAAGA	NP_002769.1:n.174+35_174+36insAAGA
NM_002778.4:c.174+35_174+36insAAGA MANE Select	NP_002769.1:n.174+35_174+36insAAGA
NM_001042465.3:c.174+35_174+36insAAGA	NP_001035930.1:n.174+35_174+36insAAGA
NM_001042466.3:c.174+35_174+36insAAGA	NP_001035931.1:n.174+35_174+36insAAGA