Canonical Allele Identifier: CA2683719205

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506400-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506401_92506402del , CM000669.2:g.92506401_92506402del	GRCh38
NC_000007.13:g.92135715_92135716del , CM000669.1:g.92135715_92135716del	GRCh37
NC_000007.12:g.91973651_91973652del	NCBI36
NG_008341.1:g.27130_27131del
NG_008341.2:g.27130_27131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-58_1804-57del MANE Select	ENSP00000248633.4:n.1804-58_1804-57del
ENST00000248633.8:c.1804-58_1804-57del	ENSP00000248633.4:n.1804-58_1804-57del
ENST00000422866.1:c.622-58_622-57del
ENST00000428214.5:c.1804-58_1804-57del	ENSP00000394413.1:n.1804-58_1804-57del
ENST00000438045.5:c.838-58_838-57del	ENSP00000410438.1:n.838-58_838-57del
ENST00000484913.5:n.1843-58_1843-57del
ENST00000496420.5:n.1422_1423del
NM_000466.2:c.1804-58_1804-57del	NP_000457.1:n.1804-58_1804-57del
NM_001282677.1:c.1804-58_1804-57del	NP_001269606.1:n.1804-58_1804-57del
NM_001282678.1:c.1180-58_1180-57del	NP_001269607.1:n.1180-58_1180-57del
XM_005250433.3:c.55-58_55-57del	XP_005250490.1:n.55-58_55-57del
XR_242246.3:n.1900-58_1900-57del
XM_017012319.2:c.55-58_55-57del	XP_016867808.1:n.55-58_55-57del
XR_001744808.2:n.831-58_831-57del
XR_242246.5:n.1851-58_1851-57del
NM_000466.3:c.1804-58_1804-57del MANE Select	NP_000457.1:n.1804-58_1804-57del
NM_001282677.2:c.1804-58_1804-57del	NP_001269606.1:n.1804-58_1804-57del
NM_001282678.2:c.1180-58_1180-57del	NP_001269607.1:n.1180-58_1180-57del