Canonical Allele Identifier: CA843846910

Gene: PEX1

Linked Data

• dbSNP Id: rs1398017951
• MyVariant Identifiers: chr7:g.92125818_92125821del (hg19) ; chr7:g.92496504_92496507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496507_92496510del , CM000669.2:g.92496507_92496510del	GRCh38
NC_000007.13:g.92125821_92125824del , CM000669.1:g.92125821_92125824del	GRCh37
NC_000007.12:g.91963757_91963760del	NCBI36
NG_008341.1:g.37025_37028del
NG_008341.2:g.37025_37028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+206_2783+209del MANE Select	ENSP00000248633.4:n.2783+206_2783+209del
ENST00000248633.8:c.2783+206_2783+209del	ENSP00000248633.4:n.2783+206_2783+209del
ENST00000428214.5:c.2612+206_2612+209del	ENSP00000394413.1:n.2612+206_2612+209del
ENST00000438045.5:c.1817+206_1817+209del	ENSP00000410438.1:n.1817+206_1817+209del
ENST00000484913.5:n.2822+206_2822+209del
ENST00000496420.5:n.2675+206_2675+209del
NM_000466.2:c.2783+206_2783+209del	NP_000457.1:n.2783+206_2783+209del
NM_001282677.1:c.2612+206_2612+209del	NP_001269606.1:n.2612+206_2612+209del
NM_001282678.1:c.2159+206_2159+209del	NP_001269607.1:n.2159+206_2159+209del
XM_005250433.3:c.1034+206_1034+209del	XP_005250490.1:n.1034+206_1034+209del
XR_242246.3:n.2879+206_2879+209del
XM_017012319.2:c.1034+206_1034+209del	XP_016867808.1:n.1034+206_1034+209del
XR_001744808.2:n.1810+206_1810+209del
XR_242246.5:n.2830+206_2830+209del
NM_000466.3:c.2783+206_2783+209del MANE Select	NP_000457.1:n.2783+206_2783+209del
NM_001282677.2:c.2612+206_2612+209del	NP_001269606.1:n.2612+206_2612+209del
NM_001282678.2:c.2159+206_2159+209del	NP_001269607.1:n.2159+206_2159+209del