Canonical Allele Identifier: CA576308594

Gene: PEX1

Linked Data

• dbSNP Id: rs1439728366
• gnomAD v2: 7-92148484-T-TTAGTGTGTATGTTTTGTATG
• gnomAD v3: 7-92519170-T-TTAGTGTGTATGTTTTGTATG
• gnomAD v4: 7-92519170-T-TTAGTGTGTATGTTTTGTATG
• MyVariant Identifiers: chr7:g.92148484_92148485insTAGTGTGTATGTTTTGTATG (hg19) ; chr7:g.92519170_92519171insTAGTGTGTATGTTTTGTATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519172_92519173insGTGTGTATGTTTTGTATGTA , CM000669.2:g.92519172_92519173insGTGTGTATGTTTTGTATGTA	GRCh38
NC_000007.13:g.92148486_92148487insGTGTGTATGTTTTGTATGTA , CM000669.1:g.92148486_92148487insGTGTGTATGTTTTGTATGTA	GRCh37
NC_000007.12:g.91986422_91986423insGTGTGTATGTTTTGTATGTA	NCBI36
NG_008341.1:g.14361_14362insCATACAAAACATACACACTA
NG_008341.2:g.14361_14362insCATACAAAACATACACACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-93_274-92insCATACAAAACATACACACTA MANE Select	ENSP00000248633.4:n.274-93_274-92insCATACAAAACATACACACTA
ENST00000248633.8:c.274-93_274-92insCATACAAAACATACACACTA	ENSP00000248633.4:n.274-93_274-92insCATACAAAACATACACACTA
ENST00000428214.5:c.274-93_274-92insCATACAAAACATACACACTA	ENSP00000394413.1:n.274-93_274-92insCATACAAAACATACACACTA
ENST00000438045.5:c.273+2931_273+2932insCATACAAAACATACACACTA	ENSP00000410438.1:n.273+2931_273+2932insCATACAAAACATACACACTA
ENST00000484913.5:n.278-93_278-92insCATACAAAACATACACACTA
NM_000466.2:c.274-93_274-92insCATACAAAACATACACACTA	NP_000457.1:n.274-93_274-92insCATACAAAACATACACACTA
NM_001282677.1:c.274-93_274-92insCATACAAAACATACACACTA	NP_001269606.1:n.274-93_274-92insCATACAAAACATACACACTA
NM_001282678.1:c.-386-93_-386-92insCATACAAAACATACACACTA	NP_001269607.1:n.-386-93_-386-92insCATACAAAACATACACACTA
XR_242246.3:n.370-93_370-92insCATACAAAACATACACACTA
XR_242246.5:n.321-93_321-92insCATACAAAACATACACACTA
NM_000466.3:c.274-93_274-92insCATACAAAACATACACACTA MANE Select	NP_000457.1:n.274-93_274-92insCATACAAAACATACACACTA
NM_001282677.2:c.274-93_274-92insCATACAAAACATACACACTA	NP_001269606.1:n.274-93_274-92insCATACAAAACATACACACTA
NM_001282678.2:c.-386-93_-386-92insCATACAAAACATACACACTA	NP_001269607.1:n.-386-93_-386-92insCATACAAAACATACACACTA