Canonical Allele Identifier: CA2776945985

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494689_92494690del , CM000669.2:g.92494689_92494690del	GRCh38
NC_000007.13:g.92124003_92124004del , CM000669.1:g.92124003_92124004del	GRCh37
NC_000007.12:g.91961939_91961940del	NCBI36
NG_008341.1:g.38842_38843del
NG_008341.2:g.38842_38843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-61_2784-60del MANE Select	ENSP00000248633.4:n.2784-61_2784-60del
ENST00000248633.8:c.2784-61_2784-60del	ENSP00000248633.4:n.2784-61_2784-60del
ENST00000428214.5:c.2613-61_2613-60del	ENSP00000394413.1:n.2613-61_2613-60del
ENST00000438045.5:c.1818-61_1818-60del	ENSP00000410438.1:n.1818-61_1818-60del
ENST00000484913.5:n.2823-61_2823-60del
ENST00000496420.5:n.2676-61_2676-60del
NM_000466.2:c.2784-61_2784-60del	NP_000457.1:n.2784-61_2784-60del
NM_001282677.1:c.2613-61_2613-60del	NP_001269606.1:n.2613-61_2613-60del
NM_001282678.1:c.2160-61_2160-60del	NP_001269607.1:n.2160-61_2160-60del
XM_005250433.3:c.1035-61_1035-60del	XP_005250490.1:n.1035-61_1035-60del
XR_242246.3:n.2880-61_2880-60del
XM_017012319.2:c.1035-61_1035-60del	XP_016867808.1:n.1035-61_1035-60del
XR_001744808.2:n.1811-61_1811-60del
XR_242246.5:n.2831-61_2831-60del
NM_000466.3:c.2784-61_2784-60del MANE Select	NP_000457.1:n.2784-61_2784-60del
NM_001282677.2:c.2613-61_2613-60del	NP_001269606.1:n.2613-61_2613-60del
NM_001282678.2:c.2160-61_2160-60del	NP_001269607.1:n.2160-61_2160-60del