Canonical Allele Identifier: CA2573146326

Gene: PEX16

Linked Data

• ClinVar Variation Id: 1346269
• ClinVar RCV Id: RCV002029926
• dbSNP Id: rs2134685523

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910304_45910305del , CM000673.2:g.45910304_45910305del	GRCh38
NC_000011.9:g.45931855_45931856del , CM000673.1:g.45931855_45931856del	GRCh37
NC_000011.8:g.45888431_45888432del	NCBI36
NG_008460.1:g.12819_12820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.960_961del MANE Select	ENSP00000368024.5:p.Met321GlyfsTer?
ENST00000241041.7:c.953-128_953-127del	ENSP00000241041.3:n.953-128_953-127del
ENST00000378750.9:c.960_961del	ENSP00000368024.5:p.Met321GlyfsTer?
ENST00000523721.2:n.190_191del
ENST00000532681.5:c.675_676del	ENSP00000434654.1:p.Met226GlyfsTer?
NM_004813.2:c.960_961del	NP_004804.1:p.Met321GlyfsTer?
NM_057174.2:c.953-128_953-127del	NP_476515.1:n.953-128_953-127del
XM_011520474.1:c.837_838del	XP_011518776.1:p.Met280GlyfsTer?
NM_004813.3:c.960_961del	NP_004804.1:p.Met321GlyfsTer?
NM_004813.4:c.960_961del MANE Select	NP_004804.2:p.Met321GlyfsTer?
NM_057174.3:c.953-128_953-127del	NP_476515.2:n.953-128_953-127del