Canonical Allele Identifier: CA576304793

Gene: PEX1

Linked Data

• dbSNP Id: rs1175376917
• gnomAD v2: 7-92132352-TACCTGA-T
• gnomAD v4: 7-92503038-TACCTGA-T
• MyVariant Identifiers: chr7:g.92132353_92132358del (hg19) ; chr7:g.92503039_92503044del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503039_92503044del , CM000669.2:g.92503039_92503044del	GRCh38
NC_000007.13:g.92132353_92132358del , CM000669.1:g.92132353_92132358del	GRCh37
NC_000007.12:g.91970289_91970294del	NCBI36
NG_008341.1:g.30488_30493del
NG_008341.2:g.30488_30493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2223_2226+2del
ENST00000248633.8:c.2223_2226+2del
ENST00000428214.5:c.2052_2055+2del
ENST00000438045.5:c.1257_1260+2del
ENST00000484913.5:n.2262_2265+2del
ENST00000496092.1:n.21_24+2del
ENST00000496420.5:n.1899_1902+2del
NM_000466.2:c.2223_2226+2del
NM_001282677.1:c.2052_2055+2del
NM_001282678.1:c.1599_1602+2del
XM_005250433.3:c.474_477+2del
XR_242246.3:n.2319_2322+2del
XM_017012319.2:c.474_477+2del
XR_001744808.2:n.1250_1253+2del
XR_242246.5:n.2270_2273+2del
NM_000466.3:c.2223_2226+2del
NM_001282677.2:c.2052_2055+2del
NM_001282678.2:c.1599_1602+2del