Canonical Allele Identifier: CA1104469496

Gene: PEX1

Linked Data

• gnomAD v3: 7-92506399-TCC-T
• gnomAD v4: 7-92506399-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506400_92506401del , CM000669.2:g.92506400_92506401del	GRCh38
NC_000007.13:g.92135714_92135715del , CM000669.1:g.92135714_92135715del	GRCh37
NC_000007.12:g.91973650_91973651del	NCBI36
NG_008341.1:g.27131_27132del
NG_008341.2:g.27131_27132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-57_1804-56del MANE Select	ENSP00000248633.4:n.1804-57_1804-56del
ENST00000248633.8:c.1804-57_1804-56del	ENSP00000248633.4:n.1804-57_1804-56del
ENST00000422866.1:c.622-57_622-56del
ENST00000428214.5:c.1804-57_1804-56del	ENSP00000394413.1:n.1804-57_1804-56del
ENST00000438045.5:c.838-57_838-56del	ENSP00000410438.1:n.838-57_838-56del
ENST00000484913.5:n.1843-57_1843-56del
ENST00000496420.5:n.1423_1424del
NM_000466.2:c.1804-57_1804-56del	NP_000457.1:n.1804-57_1804-56del
NM_001282677.1:c.1804-57_1804-56del	NP_001269606.1:n.1804-57_1804-56del
NM_001282678.1:c.1180-57_1180-56del	NP_001269607.1:n.1180-57_1180-56del
XM_005250433.3:c.55-57_55-56del	XP_005250490.1:n.55-57_55-56del
XR_242246.3:n.1900-57_1900-56del
XM_017012319.2:c.55-57_55-56del	XP_016867808.1:n.55-57_55-56del
XR_001744808.2:n.831-57_831-56del
XR_242246.5:n.1851-57_1851-56del
NM_000466.3:c.1804-57_1804-56del MANE Select	NP_000457.1:n.1804-57_1804-56del
NM_001282677.2:c.1804-57_1804-56del	NP_001269606.1:n.1804-57_1804-56del
NM_001282678.2:c.1180-57_1180-56del	NP_001269607.1:n.1180-57_1180-56del