Canonical Allele Identifier: CA161964500

Gene: PEX1

Linked Data

• dbSNP Id: rs537675243
• gnomAD v2: 7-92133938-TTAACA-T
• gnomAD v3: 7-92504624-TTAACA-T
• gnomAD v4: 7-92504624-TTAACA-T
• MyVariant Identifiers: chr7:g.92133939_92133943del (hg19) ; chr7:g.92504625_92504629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504630_92504634del , CM000669.2:g.92504630_92504634del	GRCh38
NC_000007.13:g.92133944_92133948del , CM000669.1:g.92133944_92133948del	GRCh37
NC_000007.12:g.91971880_91971884del	NCBI36
NG_008341.1:g.28903_28907del
NG_008341.2:g.28903_28907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+103_2071+107del MANE Select	ENSP00000248633.4:n.2071+103_2071+107del
ENST00000248633.8:c.2071+103_2071+107del	ENSP00000248633.4:n.2071+103_2071+107del
ENST00000428214.5:c.1901-1434_1901-1430del	ENSP00000394413.1:n.1901-1434_1901-1430de...
ENST00000438045.5:c.1105+103_1105+107del	ENSP00000410438.1:n.1105+103_1105+107del
ENST00000484913.5:n.2110+103_2110+107del
ENST00000496420.5:n.1747+103_1747+107del
NM_000466.2:c.2071+103_2071+107del	NP_000457.1:n.2071+103_2071+107del
NM_001282677.1:c.1901-1434_1901-1430del	NP_001269606.1:n.1901-1434_1901-1430del
NM_001282678.1:c.1447+103_1447+107del	NP_001269607.1:n.1447+103_1447+107del
XM_005250433.3:c.322+103_322+107del	XP_005250490.1:n.322+103_322+107del
XR_242246.3:n.2167+103_2167+107del
XM_017012319.2:c.322+103_322+107del	XP_016867808.1:n.322+103_322+107del
XR_001744808.2:n.1098+103_1098+107del
XR_242246.5:n.2118+103_2118+107del
NM_000466.3:c.2071+103_2071+107del MANE Select	NP_000457.1:n.2071+103_2071+107del
NM_001282677.2:c.1901-1434_1901-1430del	NP_001269606.1:n.1901-1434_1901-1430del
NM_001282678.2:c.1447+103_1447+107del	NP_001269607.1:n.1447+103_1447+107del