Canonical Allele Identifier: CA576308064

Gene: PEX1

Linked Data

• dbSNP Id: rs1186337530
• gnomAD v2: 7-92146402-GAA-G
• gnomAD v3: 7-92517088-GAA-G
• gnomAD v4: 7-92517088-GAA-G
• MyVariant Identifiers: chr7:g.92146403_92146404del (hg19) ; chr7:g.92517089_92517090del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517091_92517092del , CM000669.2:g.92517091_92517092del	GRCh38
NC_000007.13:g.92146405_92146406del , CM000669.1:g.92146405_92146406del	GRCh37
NC_000007.12:g.91984341_91984342del	NCBI36
NG_008341.1:g.16442_16443del
NG_008341.2:g.16442_16443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+186_1239+187del MANE Select	ENSP00000248633.4:n.1239+186_1239+187del
ENST00000248633.8:c.1239+186_1239+187del	ENSP00000248633.4:n.1239+186_1239+187del
ENST00000422866.1:c.140+186_140+187del
ENST00000428214.5:c.1239+186_1239+187del	ENSP00000394413.1:n.1239+186_1239+187del
ENST00000438045.5:c.274-3123_274-3122del	ENSP00000410438.1:n.274-3123_274-3122del
ENST00000484913.5:n.1278+186_1278+187del
NM_000466.2:c.1239+186_1239+187del	NP_000457.1:n.1239+186_1239+187del
NM_001282677.1:c.1239+186_1239+187del	NP_001269606.1:n.1239+186_1239+187del
NM_001282678.1:c.615+186_615+187del	NP_001269607.1:n.615+186_615+187del
XR_242246.3:n.1335+186_1335+187del
XM_017012319.2:c.-428+186_-428+187del	XP_016867808.1:n.-428+186_-428+187del
XR_001744808.2:n.349+186_349+187del
XR_242246.5:n.1286+186_1286+187del
NM_000466.3:c.1239+186_1239+187del MANE Select	NP_000457.1:n.1239+186_1239+187del
NM_001282677.2:c.1239+186_1239+187del	NP_001269606.1:n.1239+186_1239+187del
NM_001282678.2:c.615+186_615+187del	NP_001269607.1:n.615+186_615+187del