Canonical Allele Identifier: CA576706681

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1389988880
• gnomAD v2: 7-92119269-G-GAAAAA
• MyVariant Identifiers: chr7:g.92119269_92119270insAAAAA (hg19) ; chr7:g.92489955_92489956insAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489956_92489957insAAAAA , CM000669.2:g.92489956_92489957insAAAAA	GRCh38
NC_000007.13:g.92119270_92119271insAAAAA , CM000669.1:g.92119270_92119271insAAAAA	GRCh37
NC_000007.12:g.91957206_91957207insAAAAA	NCBI36
NG_008341.1:g.43576_43577insTTTTT
NG_008341.2:g.43576_43577insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3439-45_3439-44insTTTTT (PEX1) MANE Select	ENSP00000248633.4:n.3439-45_3439-44insTTTTT
ENST00000248633.8:c.3439-45_3439-44insTTTTT (PEX1)	ENSP00000248633.4:n.3439-45_3439-44insTTTTT
ENST00000428214.5:c.3268-45_3268-44insTTTTT (PEX1)	ENSP00000394413.1:n.3268-45_3268-44insTTTTT
ENST00000438045.5:c.2473-45_2473-44insTTTTT (PEX1)	ENSP00000410438.1:n.2473-45_2473-44insTTTTT
ENST00000469417.1:n.291_292insTTTTT (PEX1)
ENST00000484913.5:n.3478-45_3478-44insTTTTT (PEX1)
ENST00000496420.5:n.4494-45_4494-44insTTTTT (PEX1)
NM_000466.2:c.3439-45_3439-44insTTTTT (PEX1)	NP_000457.1:n.3439-45_3439-44insTTTTT
NM_001282677.1:c.3268-45_3268-44insTTTTT (PEX1)	NP_001269606.1:n.3268-45_3268-44insTTTTT
NM_001282678.1:c.2815-45_2815-44insTTTTT (PEX1)	NP_001269607.1:n.2815-45_2815-44insTTTTT
XM_005250433.3:c.1690-45_1690-44insTTTTT (PEX1)	XP_005250490.1:n.1690-45_1690-44insTTTTT
XR_242246.3:n.3535-45_3535-44insTTTTT (PEX1)
XR_927494.1:n.1036-1287_1036-1286insAAAAA (GATAD1)
XR_927495.1:n.1036-130_1036-129insAAAAA (GATAD1)
XR_927496.1:n.1041-1287_1041-1286insAAAAA (GATAD1)
XR_927497.1:n.1036-130_1036-129insAAAAA (GATAD1)
XR_927498.1:n.1124-1287_1124-1286insAAAAA (GATAD1)
XR_927500.1:n.1033-1287_1033-1286insAAAAA (GATAD1)
XR_927502.1:n.1033-130_1033-129insAAAAA (GATAD1)
XR_927503.1:n.967-1287_967-1286insAAAAA (GATAD1)
XM_017012319.2:c.1690-45_1690-44insTTTTT (PEX1)	XP_016867808.1:n.1690-45_1690-44insTTTTT
XR_001744808.2:n.2466-45_2466-44insTTTTT (PEX1)
XR_001744842.2:n.2281-1287_2281-1286insAAAAA (GATAD1)
XR_001744843.2:n.2212-1287_2212-1286insAAAAA (GATAD1)
XR_002956472.1:n.2281-130_2281-129insAAAAA (GATAD1)
XR_002956473.1:n.2369-1287_2369-1286insAAAAA (GATAD1)
XR_002956474.1:n.2286-1287_2286-1286insAAAAA (GATAD1)
XR_242246.5:n.3486-45_3486-44insTTTTT (PEX1)
XR_927494.3:n.1063-1287_1063-1286insAAAAA (GATAD1)
XR_927500.3:n.1060-1287_1060-1286insAAAAA (GATAD1)
XR_927503.3:n.994-1287_994-1286insAAAAA (GATAD1)
NM_000466.3:c.3439-45_3439-44insTTTTT (PEX1) MANE Select	NP_000457.1:n.3439-45_3439-44insTTTTT
NM_001282677.2:c.3268-45_3268-44insTTTTT (PEX1)	NP_001269606.1:n.3268-45_3268-44insTTTTT
NM_001282678.2:c.2815-45_2815-44insTTTTT (PEX1)	NP_001269607.1:n.2815-45_2815-44insTTTTT