Canonical Allele Identifier: CA2680490696

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872178-TTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872182_136872185del , CM000668.2:g.136872182_136872185del	GRCh38
NC_000006.11:g.137193320_137193323del , CM000668.1:g.137193320_137193323del	GRCh37
NC_000006.10:g.137235013_137235016del	NCBI36
NG_008462.1:g.54603_54606del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-16_748-13del MANE Select	ENSP00000315680.3:n.748-16_748-13del
ENST00000541292.6:c.*13-16_*13-13del	ENSP00000441004.1:n.*13-16_*13-13del
ENST00000678002.1:c.436-16_436-13del
ENST00000678557.1:c.634-16_634-13del	ENSP00000502962.1:n.634-16_634-13del
ENST00000678593.1:c.753-16_753-13del	ENSP00000503841.1:n.753-16_753-13del
ENST00000679286.1:c.628-16_628-13del	ENSP00000503168.1:n.628-16_628-13del
ENST00000318471.4:c.748-16_748-13del	ENSP00000315680.3:n.748-16_748-13del
NM_000288.3:c.748-16_748-13del	NP_000279.1:n.748-16_748-13del
XM_005267019.3:c.634-16_634-13del	XP_005267076.1:n.634-16_634-13del
XM_006715502.1:c.454-16_454-13del	XP_006715565.1:n.454-16_454-13del
XM_011535900.1:c.527-25960_527-25957del	XP_011534202.1:n.527-25960_527-25957del
XM_005267019.4:c.634-16_634-13del	XP_005267076.1:n.634-16_634-13del
XM_006715502.2:c.454-16_454-13del	XP_006715565.1:n.454-16_454-13del
XM_017010934.2:c.527-25960_527-25957del	XP_016866423.1:n.527-25960_527-25957del
NM_000288.4:c.748-16_748-13del MANE Select	NP_000279.1:n.748-16_748-13del