Canonical Allele Identifier: CA2683719211

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506409-GTGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506410_92506413del , CM000669.2:g.92506410_92506413del	GRCh38
NC_000007.13:g.92135724_92135727del , CM000669.1:g.92135724_92135727del	GRCh37
NC_000007.12:g.91973660_91973663del	NCBI36
NG_008341.1:g.27119_27122del
NG_008341.2:g.27119_27122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-69_1804-66del MANE Select	ENSP00000248633.4:n.1804-69_1804-66del
ENST00000248633.8:c.1804-69_1804-66del	ENSP00000248633.4:n.1804-69_1804-66del
ENST00000422866.1:c.622-69_622-66del
ENST00000428214.5:c.1804-69_1804-66del	ENSP00000394413.1:n.1804-69_1804-66del
ENST00000438045.5:c.838-69_838-66del	ENSP00000410438.1:n.838-69_838-66del
ENST00000484913.5:n.1843-69_1843-66del
ENST00000496420.5:n.1411_1414del
NM_000466.2:c.1804-69_1804-66del	NP_000457.1:n.1804-69_1804-66del
NM_001282677.1:c.1804-69_1804-66del	NP_001269606.1:n.1804-69_1804-66del
NM_001282678.1:c.1180-69_1180-66del	NP_001269607.1:n.1180-69_1180-66del
XM_005250433.3:c.55-69_55-66del	XP_005250490.1:n.55-69_55-66del
XR_242246.3:n.1900-69_1900-66del
XM_017012319.2:c.55-69_55-66del	XP_016867808.1:n.55-69_55-66del
XR_001744808.2:n.831-69_831-66del
XR_242246.5:n.1851-69_1851-66del
NM_000466.3:c.1804-69_1804-66del MANE Select	NP_000457.1:n.1804-69_1804-66del
NM_001282677.2:c.1804-69_1804-66del	NP_001269606.1:n.1804-69_1804-66del
NM_001282678.2:c.1180-69_1180-66del	NP_001269607.1:n.1180-69_1180-66del