Canonical Allele Identifier: CA5959720

Gene: PEX16

Linked Data

• dbSNP Id: rs753736433
• ExAC: 11:45931818 TA / T
• gnomAD v2: 11-45931818-TA-T
• gnomAD v4: 11-45910267-TA-T
• MyVariant Identifiers: chr11:g.45931819del (hg19) ; chr11:g.45910268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910268del , CM000673.2:g.45910268del	GRCh38
NC_000011.9:g.45931819del , CM000673.1:g.45931819del	GRCh37
NC_000011.8:g.45888395del	NCBI36
NG_008460.1:g.12856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.997del MANE Select	ENSP00000368024.5:p.Tyr333ThrfsTer24
ENST00000241041.7:c.953-91del	ENSP00000241041.3:n.953-91del
ENST00000378750.9:c.997del	ENSP00000368024.5:p.Tyr333ThrfsTer24
ENST00000523721.2:n.227del
ENST00000532681.5:c.712del	ENSP00000434654.1:p.Tyr238ThrfsTer?
NM_004813.2:c.997del	NP_004804.1:p.Tyr333ThrfsTer24
NM_057174.2:c.953-91del	NP_476515.1:n.953-91del
XM_011520474.1:c.874del	XP_011518776.1:p.Tyr292ThrfsTer24
NM_004813.3:c.997del	NP_004804.1:p.Tyr333ThrfsTer24
NM_004813.4:c.997del MANE Select	NP_004804.2:p.Tyr333ThrfsTer24
NM_057174.3:c.953-91del	NP_476515.2:n.953-91del