Canonical Allele Identifier: CA2776946758

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506421_92506422insGT , CM000669.2:g.92506421_92506422insGT	GRCh38
NC_000007.13:g.92135735_92135736insGT , CM000669.1:g.92135735_92135736insGT	GRCh37
NC_000007.12:g.91973671_91973672insGT	NCBI36
NG_008341.1:g.27110_27111insAC
NG_008341.2:g.27110_27111insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-78_1804-77insAC MANE Select	ENSP00000248633.4:n.1804-78_1804-77insAC
ENST00000248633.8:c.1804-78_1804-77insAC	ENSP00000248633.4:n.1804-78_1804-77insAC
ENST00000422866.1:c.622-78_622-77insAC
ENST00000428214.5:c.1804-78_1804-77insAC	ENSP00000394413.1:n.1804-78_1804-77insAC
ENST00000438045.5:c.838-78_838-77insAC	ENSP00000410438.1:n.838-78_838-77insAC
ENST00000484913.5:n.1843-78_1843-77insAC
ENST00000496420.5:n.1402_1403insAC
NM_000466.2:c.1804-78_1804-77insAC	NP_000457.1:n.1804-78_1804-77insAC
NM_001282677.1:c.1804-78_1804-77insAC	NP_001269606.1:n.1804-78_1804-77insAC
NM_001282678.1:c.1180-78_1180-77insAC	NP_001269607.1:n.1180-78_1180-77insAC
XM_005250433.3:c.55-78_55-77insAC	XP_005250490.1:n.55-78_55-77insAC
XR_242246.3:n.1900-78_1900-77insAC
XM_017012319.2:c.55-78_55-77insAC	XP_016867808.1:n.55-78_55-77insAC
XR_001744808.2:n.831-78_831-77insAC
XR_242246.5:n.1851-78_1851-77insAC
NM_000466.3:c.1804-78_1804-77insAC MANE Select	NP_000457.1:n.1804-78_1804-77insAC
NM_001282677.2:c.1804-78_1804-77insAC	NP_001269606.1:n.1804-78_1804-77insAC
NM_001282678.2:c.1180-78_1180-77insAC	NP_001269607.1:n.1180-78_1180-77insAC