Canonical Allele Identifier: CA2773213640

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866803_136866804insAG , CM000668.2:g.136866803_136866804insAG	GRCh38
NC_000006.11:g.137187941_137187942insAG , CM000668.1:g.137187941_137187942insAG	GRCh37
NC_000006.10:g.137229634_137229635insAG	NCBI36
NG_008462.1:g.49224_49225insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.633+70_633+71insAG MANE Select	ENSP00000315680.3:n.633+70_633+71insAG
ENST00000541292.6:c.633+70_633+71insAG	ENSP00000441004.1:n.633+70_633+71insAG
ENST00000678002.1:c.321+70_321+71insAG
ENST00000678557.1:c.519+70_519+71insAG	ENSP00000502962.1:n.519+70_519+71insAG
ENST00000678593.1:c.638+70_638+71insAG	ENSP00000503841.1:n.638+70_638+71insAG
ENST00000679286.1:c.513+70_513+71insAG	ENSP00000503168.1:n.513+70_513+71insAG
ENST00000318471.4:c.633+70_633+71insAG	ENSP00000315680.3:n.633+70_633+71insAG
ENST00000541292.5:c.633+70_633+71insAG	ENSP00000441004.1:n.633+70_633+71insAG
NM_000288.3:c.633+70_633+71insAG	NP_000279.1:n.633+70_633+71insAG
XM_005267019.3:c.519+70_519+71insAG	XP_005267076.1:n.519+70_519+71insAG
XM_006715502.1:c.340-3087_340-3086insAG	XP_006715565.1:n.340-3087_340-3086insAG
XM_011535900.1:c.526+20622_526+20623insAG	XP_011534202.1:n.526+20622_526+20623insAG
XM_005267019.4:c.519+70_519+71insAG	XP_005267076.1:n.519+70_519+71insAG
XM_006715502.2:c.340-3087_340-3086insAG	XP_006715565.1:n.340-3087_340-3086insAG
XM_017010934.2:c.526+20622_526+20623insAG	XP_016866423.1:n.526+20622_526+20623insAG
NM_000288.4:c.633+70_633+71insAG MANE Select	NP_000279.1:n.633+70_633+71insAG