Canonical Allele Identifier: CA2678796848

Gene: PEX6

Linked Data

• gnomAD v4: 6-42969889-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969889_42969890insC , CM000668.2:g.42969889_42969890insC	GRCh38
NC_000006.11:g.42937627_42937628insC , CM000668.1:g.42937627_42937628insC	GRCh37
NC_000006.10:g.43045605_43045606insC	NCBI36
NG_008370.1:g.14354_14355insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1228_1229insG MANE Select	ENSP00000303511.8:p.Tyr410Ter
ENST00000244546.4:c.1228_1229insG	ENSP00000244546.4:p.Tyr410Ter
ENST00000304611.12:c.1228_1229insG	ENSP00000303511.8:p.Tyr410Ter
NM_000287.3:c.1228_1229insG	NP_000278.3:p.Tyr410Ter
NM_001316313.1:c.964_965insG	NP_001303242.1:p.Tyr322Ter
NR_133009.1:n.1321_1322insG
XM_011514661.1:c.1144_1145insG	XP_011512963.1:p.Tyr382Ter
XR_926246.1:n.1321_1322insG
XM_011514661.2:c.1144_1145insG	XP_011512963.1:p.Tyr382Ter
XR_001743466.2:n.2302_2303insG
NM_000287.4:c.1228_1229insG MANE Select	NP_000278.3:p.Tyr410Ter
NM_001316313.2:c.964_965insG	NP_001303242.1:p.Tyr322Ter
NR_133009.2:n.1259_1260insG