Canonical Allele Identifier: CA2683718120

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496697-TTCATAGGCTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496698_92496708del , CM000669.2:g.92496698_92496708del	GRCh38
NC_000007.13:g.92126012_92126022del , CM000669.1:g.92126012_92126022del	GRCh37
NC_000007.12:g.91963948_91963958del	NCBI36
NG_008341.1:g.36824_36834del
NG_008341.2:g.36824_36834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+5_2783+15del MANE Select	ENSP00000248633.4:n.2783+5_2783+15del
ENST00000248633.8:c.2783+5_2783+15del	ENSP00000248633.4:n.2783+5_2783+15del
ENST00000428214.5:c.2612+5_2612+15del	ENSP00000394413.1:n.2612+5_2612+15del
ENST00000438045.5:c.1817+5_1817+15del	ENSP00000410438.1:n.1817+5_1817+15del
ENST00000484913.5:n.2822+5_2822+15del
ENST00000496420.5:n.2675+5_2675+15del
NM_000466.2:c.2783+5_2783+15del	NP_000457.1:n.2783+5_2783+15del
NM_001282677.1:c.2612+5_2612+15del	NP_001269606.1:n.2612+5_2612+15del
NM_001282678.1:c.2159+5_2159+15del	NP_001269607.1:n.2159+5_2159+15del
XM_005250433.3:c.1034+5_1034+15del	XP_005250490.1:n.1034+5_1034+15del
XR_242246.3:n.2879+5_2879+15del
XM_017012319.2:c.1034+5_1034+15del	XP_016867808.1:n.1034+5_1034+15del
XR_001744808.2:n.1810+5_1810+15del
XR_242246.5:n.2830+5_2830+15del
NM_000466.3:c.2783+5_2783+15del MANE Select	NP_000457.1:n.2783+5_2783+15del
NM_001282677.2:c.2612+5_2612+15del	NP_001269606.1:n.2612+5_2612+15del
NM_001282678.2:c.2159+5_2159+15del	NP_001269607.1:n.2159+5_2159+15del