Canonical Allele Identifier: CA2683718627

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499985-A-ATTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499985_92499986insTTGT , CM000669.2:g.92499985_92499986insTTGT	GRCh38
NC_000007.13:g.92129299_92129300insTTGT , CM000669.1:g.92129299_92129300insTTGT	GRCh37
NC_000007.12:g.91967235_91967236insTTGT	NCBI36
NG_008341.1:g.33546_33547insACAA
NG_008341.2:g.33546_33547insACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-148_2584-147insACAA MANE Select	ENSP00000248633.4:n.2584-148_2584-147insACAA
ENST00000248633.8:c.2584-148_2584-147insACAA	ENSP00000248633.4:n.2584-148_2584-147insACAA
ENST00000428214.5:c.2413-148_2413-147insACAA	ENSP00000394413.1:n.2413-148_2413-147insACAA
ENST00000438045.5:c.1618-148_1618-147insACAA	ENSP00000410438.1:n.1618-148_1618-147insACAA
ENST00000484913.5:n.2623-148_2623-147insACAA
ENST00000496420.5:n.2476-148_2476-147insACAA
NM_000466.2:c.2584-148_2584-147insACAA	NP_000457.1:n.2584-148_2584-147insACAA
NM_001282677.1:c.2413-148_2413-147insACAA	NP_001269606.1:n.2413-148_2413-147insACAA
NM_001282678.1:c.1960-148_1960-147insACAA	NP_001269607.1:n.1960-148_1960-147insACAA
XM_005250433.3:c.835-148_835-147insACAA	XP_005250490.1:n.835-148_835-147insACAA
XR_242246.3:n.2680-148_2680-147insACAA
XM_017012319.2:c.835-148_835-147insACAA	XP_016867808.1:n.835-148_835-147insACAA
XR_001744808.2:n.1611-148_1611-147insACAA
XR_242246.5:n.2631-148_2631-147insACAA
NM_000466.3:c.2584-148_2584-147insACAA MANE Select	NP_000457.1:n.2584-148_2584-147insACAA
NM_001282677.2:c.2413-148_2413-147insACAA	NP_001269606.1:n.2413-148_2413-147insACAA
NM_001282678.2:c.1960-148_1960-147insACAA	NP_001269607.1:n.1960-148_1960-147insACAA