Canonical Allele Identifier: CA2776945610

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491644_92491645insAA , CM000669.2:g.92491644_92491645insAA	GRCh38
NC_000007.13:g.92120958_92120959insAA , CM000669.1:g.92120958_92120959insAA	GRCh37
NC_000007.12:g.91958894_91958895insAA	NCBI36
NG_008341.1:g.41887_41888insTT
NG_008341.2:g.41887_41888insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-143_3208-142insTT (PEX1) MANE Select	ENSP00000248633.4:n.3208-143_3208-142insTT
ENST00000248633.8:c.3208-143_3208-142insTT (PEX1)	ENSP00000248633.4:n.3208-143_3208-142insTT
ENST00000428214.5:c.3037-143_3037-142insTT (PEX1)	ENSP00000394413.1:n.3037-143_3037-142insTT
ENST00000438045.5:c.2242-143_2242-142insTT (PEX1)	ENSP00000410438.1:n.2242-143_2242-142insTT
ENST00000484913.5:n.3247-143_3247-142insTT (PEX1)
ENST00000496420.5:n.4263-143_4263-142insTT (PEX1)
NM_000466.2:c.3208-143_3208-142insTT (PEX1)	NP_000457.1:n.3208-143_3208-142insTT
NM_001282677.1:c.3037-143_3037-142insTT (PEX1)	NP_001269606.1:n.3037-143_3037-142insTT
NM_001282678.1:c.2584-143_2584-142insTT (PEX1)	NP_001269607.1:n.2584-143_2584-142insTT
XM_005250433.3:c.1459-143_1459-142insTT (PEX1)	XP_005250490.1:n.1459-143_1459-142insTT
XR_242246.3:n.3304-143_3304-142insTT (PEX1)
XM_017012319.2:c.1459-143_1459-142insTT (PEX1)	XP_016867808.1:n.1459-143_1459-142insTT
XR_001744808.2:n.2235-143_2235-142insTT (PEX1)
XR_001744842.2:n.2682_2683insAA (GATAD1)
XR_001744843.2:n.2613_2614insAA (GATAD1)
XR_002956472.1:n.2739_2740insAA (GATAD1)
XR_002956473.1:n.2770_2771insAA (GATAD1)
XR_002956474.1:n.2687_2688insAA (GATAD1)
XR_242246.5:n.3255-143_3255-142insTT (PEX1)
XR_927494.3:n.1464_1465insAA (GATAD1)
XR_927500.3:n.1461_1462insAA (GATAD1)
XR_927503.3:n.1395_1396insAA (GATAD1)
NM_000466.3:c.3208-143_3208-142insTT (PEX1) MANE Select	NP_000457.1:n.3208-143_3208-142insTT
NM_001282677.2:c.3037-143_3037-142insTT (PEX1)	NP_001269606.1:n.3037-143_3037-142insTT
NM_001282678.2:c.2584-143_2584-142insTT (PEX1)	NP_001269607.1:n.2584-143_2584-142insTT