Canonical Allele Identifier: CA2683717161

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491597-C-CAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491599_92491600insAAAAA , CM000669.2:g.92491599_92491600insAAAAA	GRCh38
NC_000007.13:g.92120913_92120914insAAAAA , CM000669.1:g.92120913_92120914insAAAAA	GRCh37
NC_000007.12:g.91958849_91958850insAAAAA	NCBI36
NG_008341.1:g.41934_41935insTTTTT
NG_008341.2:g.41934_41935insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-96_3208-95insTTTTT (PEX1) MANE Select	ENSP00000248633.4:n.3208-96_3208-95insTTTTT
ENST00000248633.8:c.3208-96_3208-95insTTTTT (PEX1)	ENSP00000248633.4:n.3208-96_3208-95insTTTTT
ENST00000428214.5:c.3037-96_3037-95insTTTTT (PEX1)	ENSP00000394413.1:n.3037-96_3037-95insTTTTT
ENST00000438045.5:c.2242-96_2242-95insTTTTT (PEX1)	ENSP00000410438.1:n.2242-96_2242-95insTTTTT
ENST00000484913.5:n.3247-96_3247-95insTTTTT (PEX1)
ENST00000496420.5:n.4263-96_4263-95insTTTTT (PEX1)
NM_000466.2:c.3208-96_3208-95insTTTTT (PEX1)	NP_000457.1:n.3208-96_3208-95insTTTTT
NM_001282677.1:c.3037-96_3037-95insTTTTT (PEX1)	NP_001269606.1:n.3037-96_3037-95insTTTTT
NM_001282678.1:c.2584-96_2584-95insTTTTT (PEX1)	NP_001269607.1:n.2584-96_2584-95insTTTTT
XM_005250433.3:c.1459-96_1459-95insTTTTT (PEX1)	XP_005250490.1:n.1459-96_1459-95insTTTTT
XR_242246.3:n.3304-96_3304-95insTTTTT (PEX1)
XM_017012319.2:c.1459-96_1459-95insTTTTT (PEX1)	XP_016867808.1:n.1459-96_1459-95insTTTTT
XR_001744808.2:n.2235-96_2235-95insTTTTT (PEX1)
XR_001744842.2:n.2637_2638insAAAAA (GATAD1)
XR_001744843.2:n.2568_2569insAAAAA (GATAD1)
XR_002956472.1:n.2694_2695insAAAAA (GATAD1)
XR_002956473.1:n.2725_2726insAAAAA (GATAD1)
XR_002956474.1:n.2642_2643insAAAAA (GATAD1)
XR_242246.5:n.3255-96_3255-95insTTTTT (PEX1)
XR_927494.3:n.1419_1420insAAAAA (GATAD1)
XR_927500.3:n.1416_1417insAAAAA (GATAD1)
XR_927503.3:n.1350_1351insAAAAA (GATAD1)
NM_000466.3:c.3208-96_3208-95insTTTTT (PEX1) MANE Select	NP_000457.1:n.3208-96_3208-95insTTTTT
NM_001282677.2:c.3037-96_3037-95insTTTTT (PEX1)	NP_001269606.1:n.3037-96_3037-95insTTTTT
NM_001282678.2:c.2584-96_2584-95insTTTTT (PEX1)	NP_001269607.1:n.2584-96_2584-95insTTTTT