Canonical Allele Identifier: CA161953338

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs536412557
• gnomAD v2: 7-92120942-CATTA-C
• gnomAD v3: 7-92491628-CATTA-C
• gnomAD v4: 7-92491628-CATTA-C
• MyVariant Identifiers: chr7:g.92120943_92120946del (hg19) ; chr7:g.92491629_92491632del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491632_92491635del , CM000669.2:g.92491632_92491635del	GRCh38
NC_000007.13:g.92120946_92120949del , CM000669.1:g.92120946_92120949del	GRCh37
NC_000007.12:g.91958882_91958885del	NCBI36
NG_008341.1:g.41900_41903del
NG_008341.2:g.41900_41903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-130_3208-127del (PEX1) MANE Select	ENSP00000248633.4:n.3208-130_3208-127del
ENST00000248633.8:c.3208-130_3208-127del (PEX1)	ENSP00000248633.4:n.3208-130_3208-127del
ENST00000428214.5:c.3037-130_3037-127del (PEX1)	ENSP00000394413.1:n.3037-130_3037-127del
ENST00000438045.5:c.2242-130_2242-127del (PEX1)	ENSP00000410438.1:n.2242-130_2242-127del
ENST00000484913.5:n.3247-130_3247-127del (PEX1)
ENST00000496420.5:n.4263-130_4263-127del (PEX1)
NM_000466.2:c.3208-130_3208-127del (PEX1)	NP_000457.1:n.3208-130_3208-127del
NM_001282677.1:c.3037-130_3037-127del (PEX1)	NP_001269606.1:n.3037-130_3037-127del
NM_001282678.1:c.2584-130_2584-127del (PEX1)	NP_001269607.1:n.2584-130_2584-127del
XM_005250433.3:c.1459-130_1459-127del (PEX1)	XP_005250490.1:n.1459-130_1459-127del
XR_242246.3:n.3304-130_3304-127del (PEX1)
XM_017012319.2:c.1459-130_1459-127del (PEX1)	XP_016867808.1:n.1459-130_1459-127del
XR_001744808.2:n.2235-130_2235-127del (PEX1)
XR_001744842.2:n.2670_2673del (GATAD1)
XR_001744843.2:n.2601_2604del (GATAD1)
XR_002956472.1:n.2727_2730del (GATAD1)
XR_002956473.1:n.2758_2761del (GATAD1)
XR_002956474.1:n.2675_2678del (GATAD1)
XR_242246.5:n.3255-130_3255-127del (PEX1)
XR_927494.3:n.1452_1455del (GATAD1)
XR_927500.3:n.1449_1452del (GATAD1)
XR_927503.3:n.1383_1386del (GATAD1)
NM_000466.3:c.3208-130_3208-127del (PEX1) MANE Select	NP_000457.1:n.3208-130_3208-127del
NM_001282677.2:c.3037-130_3037-127del (PEX1)	NP_001269606.1:n.3037-130_3037-127del
NM_001282678.2:c.2584-130_2584-127del (PEX1)	NP_001269607.1:n.2584-130_2584-127del