Canonical Allele Identifier: CA2680490602

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872083-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872085_136872086del , CM000668.2:g.136872085_136872086del	GRCh38
NC_000006.11:g.137193223_137193224del , CM000668.1:g.137193223_137193224del	GRCh37
NC_000006.10:g.137234916_137234917del	NCBI36
NG_008462.1:g.54506_54507del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-113_748-112del MANE Select	ENSP00000315680.3:n.748-113_748-112del
ENST00000541292.6:c.*13-113_*13-112del	ENSP00000441004.1:n.*13-113_*13-112del
ENST00000678002.1:c.436-113_436-112del
ENST00000678557.1:c.634-113_634-112del	ENSP00000502962.1:n.634-113_634-112del
ENST00000678593.1:c.753-113_753-112del	ENSP00000503841.1:n.753-113_753-112del
ENST00000679286.1:c.628-113_628-112del	ENSP00000503168.1:n.628-113_628-112del
ENST00000318471.4:c.748-113_748-112del	ENSP00000315680.3:n.748-113_748-112del
NM_000288.3:c.748-113_748-112del	NP_000279.1:n.748-113_748-112del
XM_005267019.3:c.634-113_634-112del	XP_005267076.1:n.634-113_634-112del
XM_006715502.1:c.454-113_454-112del	XP_006715565.1:n.454-113_454-112del
XM_011535900.1:c.526+25904_526+25905del	XP_011534202.1:n.526+25904_526+25905del
XM_005267019.4:c.634-113_634-112del	XP_005267076.1:n.634-113_634-112del
XM_006715502.2:c.454-113_454-112del	XP_006715565.1:n.454-113_454-112del
XM_017010934.2:c.526+25904_526+25905del	XP_016866423.1:n.526+25904_526+25905del
NM_000288.4:c.748-113_748-112del MANE Select	NP_000279.1:n.748-113_748-112del