Canonical Allele Identifier: CA570743749

Gene: PEX7

Linked Data

• dbSNP Id: rs1396656690
• gnomAD v2: 6-137143805-TGAGTGCGGTGTGCGGTGG-T
• gnomAD v3: 6-136822667-TGAGTGCGGTGTGCGGTGG-T
• gnomAD v4: 6-136822667-TGAGTGCGGTGTGCGGTGG-T
• MyVariant Identifiers: chr6:g.137143806_137143823del (hg19) ; chr6:g.136822668_136822685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822668_136822685del , CM000668.2:g.136822668_136822685del	GRCh38
NC_000006.11:g.137143806_137143823del , CM000668.1:g.137143806_137143823del	GRCh37
NC_000006.10:g.137185499_137185516del	NCBI36
NG_008462.1:g.5089_5106del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.3_20del MANE Select	ENSP00000315680.3:p.Met1_Gly7delinsIle
ENST00000541292.6:c.3_20del	ENSP00000441004.1:p.Met1_Gly7delinsIle
ENST00000678593.1:c.3_20del	ENSP00000503841.1:p.Met1_Gly7delinsIle
ENST00000318471.4:c.3_20del	ENSP00000315680.3:p.Met1_Gly7delinsIle
ENST00000367756.8:c.3_20del	ENSP00000356730.4:p.Met1_Gly7delinsIle
ENST00000541292.5:c.3_20del	ENSP00000441004.1:p.Met1_Gly7delinsIle
NM_000288.3:c.3_20del	NP_000279.1:p.Met1_Gly7delinsIle
XM_006715502.1:c.3_20del	XP_006715565.1:p.Met1_Gly7delinsIle
XM_011535900.1:c.3_20del	XP_011534202.1:p.Met1_Gly7delinsIle
XM_006715502.2:c.3_20del	XP_006715565.1:p.Met1_Gly7delinsIle
XM_017010934.2:c.3_20del	XP_016866423.1:p.Met1_Gly7delinsIle
NM_000288.4:c.3_20del MANE Select	NP_000279.1:p.Met1_Gly7delinsIle