Canonical Allele Identifier: CA1725936923

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503038_92503044delinsTACCTGA , CM000669.2:g.92503038_92503044delinsTACCTGA	GRCh38
NC_000007.13:g.92132352_92132358delinsTACCTGA , CM000669.1:g.92132352_92132358delinsTACCTGA	GRCh37
NC_000007.12:g.91970288_91970294delinsTACCTGA	NCBI36
NG_008341.1:g.30488_30494delinsTCAGGTA
NG_008341.2:g.30488_30494delinsTCAGGTA

Transcript Alleles

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