Canonical Allele Identifier: CA1725933248

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496672_92496674delinsAAC , CM000669.2:g.92496672_92496674delinsAAC	GRCh38
NC_000007.13:g.92125986_92125988delinsAAC , CM000669.1:g.92125986_92125988delinsAAC	GRCh37
NC_000007.12:g.91963922_91963924delinsAAC	NCBI36
NG_008341.1:g.36858_36860delinsGTT
NG_008341.2:g.36858_36860delinsGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+39_2783+41delinsGTT MANE Select	ENSP00000248633.4:n.2783+39_2783+41delins...
ENST00000248633.8:c.2783+39_2783+41delinsGTT	ENSP00000248633.4:n.2783+39_2783+41delins...
ENST00000428214.5:c.2612+39_2612+41delinsGTT	ENSP00000394413.1:n.2612+39_2612+41delins...
ENST00000438045.5:c.1817+39_1817+41delinsGTT	ENSP00000410438.1:n.1817+39_1817+41delins...
ENST00000484913.5:n.2822+39_2822+41delinsGTT
ENST00000496420.5:n.2675+39_2675+41delinsGTT
NM_000466.2:c.2783+39_2783+41delinsGTT	NP_000457.1:n.2783+39_2783+41delinsGTT
NM_001282677.1:c.2612+39_2612+41delinsGTT	NP_001269606.1:n.2612+39_2612+41delinsGTT...
NM_001282678.1:c.2159+39_2159+41delinsGTT	NP_001269607.1:n.2159+39_2159+41delinsGTT...
XM_005250433.3:c.1034+39_1034+41delinsGTT	XP_005250490.1:n.1034+39_1034+41delinsGTT...
XR_242246.3:n.2879+39_2879+41delinsGTT
XM_017012319.2:c.1034+39_1034+41delinsGTT	XP_016867808.1:n.1034+39_1034+41delinsGTT...
XR_001744808.2:n.1810+39_1810+41delinsGTT
XR_242246.5:n.2830+39_2830+41delinsGTT
NM_000466.3:c.2783+39_2783+41delinsGTT MANE Select	NP_000457.1:n.2783+39_2783+41delinsGTT
NM_001282677.2:c.2612+39_2612+41delinsGTT	NP_001269606.1:n.2612+39_2612+41delinsGTT...
NM_001282678.2:c.2159+39_2159+41delinsGTT	NP_001269607.1:n.2159+39_2159+41delinsGTT...