Canonical Allele Identifier: CA1725936874

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502989_92502990delinsTA , CM000669.2:g.92502989_92502990delinsTA	GRCh38
NC_000007.13:g.92132303_92132304delinsTA , CM000669.1:g.92132303_92132304delinsTA	GRCh37
NC_000007.12:g.91970239_91970240delinsTA	NCBI36
NG_008341.1:g.30542_30543delinsTA
NG_008341.2:g.30542_30543delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+51_2226+52delinsTA MANE Select	ENSP00000248633.4:n.2226+51_2226+52delinsTA
ENST00000248633.8:c.2226+51_2226+52delinsTA	ENSP00000248633.4:n.2226+51_2226+52delinsTA
ENST00000428214.5:c.2055+51_2055+52delinsTA	ENSP00000394413.1:n.2055+51_2055+52delinsTA
ENST00000438045.5:c.1260+51_1260+52delinsTA	ENSP00000410438.1:n.1260+51_1260+52delinsTA
ENST00000484913.5:n.2265+51_2265+52delinsTA
ENST00000496092.1:n.24+51_24+52delinsTA
ENST00000496420.5:n.1902+51_1902+52delinsTA
NM_000466.2:c.2226+51_2226+52delinsTA	NP_000457.1:n.2226+51_2226+52delinsTA
NM_001282677.1:c.2055+51_2055+52delinsTA	NP_001269606.1:n.2055+51_2055+52delinsTA
NM_001282678.1:c.1602+51_1602+52delinsTA	NP_001269607.1:n.1602+51_1602+52delinsTA
XM_005250433.3:c.477+51_477+52delinsTA	XP_005250490.1:n.477+51_477+52delinsTA
XR_242246.3:n.2322+51_2322+52delinsTA
XM_017012319.2:c.477+51_477+52delinsTA	XP_016867808.1:n.477+51_477+52delinsTA
XR_001744808.2:n.1253+51_1253+52delinsTA
XR_242246.5:n.2273+51_2273+52delinsTA
NM_000466.3:c.2226+51_2226+52delinsTA MANE Select	NP_000457.1:n.2226+51_2226+52delinsTA
NM_001282677.2:c.2055+51_2055+52delinsTA	NP_001269606.1:n.2055+51_2055+52delinsTA
NM_001282678.2:c.1602+51_1602+52delinsTA	NP_001269607.1:n.1602+51_1602+52delinsTA