Canonical Allele Identifier: CA570574044

Gene: PEX7

Linked Data

• dbSNP Id: rs1419412646
• gnomAD v2: 6-137193318-TTC-T
• gnomAD v4: 6-136872180-TTC-T
• MyVariant Identifiers: chr6:g.137193319_137193320del (hg19) ; chr6:g.136872181_136872182del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872182_136872183del , CM000668.2:g.136872182_136872183del	GRCh38
NC_000006.11:g.137193320_137193321del , CM000668.1:g.137193320_137193321del	GRCh37
NC_000006.10:g.137235013_137235014del	NCBI36
NG_008462.1:g.54603_54604del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-16_748-15del MANE Select	ENSP00000315680.3:n.748-16_748-15del
ENST00000541292.6:c.*13-16_*13-15del	ENSP00000441004.1:n.*13-16_*13-15del
ENST00000678002.1:c.436-16_436-15del
ENST00000678557.1:c.634-16_634-15del	ENSP00000502962.1:n.634-16_634-15del
ENST00000678593.1:c.753-16_753-15del	ENSP00000503841.1:n.753-16_753-15del
ENST00000679286.1:c.628-16_628-15del	ENSP00000503168.1:n.628-16_628-15del
ENST00000318471.4:c.748-16_748-15del	ENSP00000315680.3:n.748-16_748-15del
NM_000288.3:c.748-16_748-15del	NP_000279.1:n.748-16_748-15del
XM_005267019.3:c.634-16_634-15del	XP_005267076.1:n.634-16_634-15del
XM_006715502.1:c.454-16_454-15del	XP_006715565.1:n.454-16_454-15del
XM_011535900.1:c.527-25960_527-25959del	XP_011534202.1:n.527-25960_527-25959del
XM_005267019.4:c.634-16_634-15del	XP_005267076.1:n.634-16_634-15del
XM_006715502.2:c.454-16_454-15del	XP_006715565.1:n.454-16_454-15del
XM_017010934.2:c.527-25960_527-25959del	XP_016866423.1:n.527-25960_527-25959del
NM_000288.4:c.748-16_748-15del MANE Select	NP_000279.1:n.748-16_748-15del