Canonical Allele Identifier: CA4340875

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs757598492
• ExAC: 7:92120857 AATTTT / A
• gnomAD v2: 7-92120857-AATTTT-A
• gnomAD v3: 7-92491543-AATTTT-A
• gnomAD v4: 7-92491543-AATTTT-A
• MyVariant Identifiers: chr7:g.92120858_92120862del (hg19) ; chr7:g.92491545_92491549del (hg38) ; chr7:g.92491544_92491548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491545_92491549del , CM000669.2:g.92491545_92491549del	GRCh38
NC_000007.13:g.92120859_92120863del , CM000669.1:g.92120859_92120863del	GRCh37
NC_000007.12:g.91958795_91958799del	NCBI36
NG_008341.1:g.41984_41988del
NG_008341.2:g.41984_41988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-46_3208-42del (PEX1) MANE Select	ENSP00000248633.4:n.3208-46_3208-42del
ENST00000248633.8:c.3208-46_3208-42del (PEX1)	ENSP00000248633.4:n.3208-46_3208-42del
ENST00000428214.5:c.3037-46_3037-42del (PEX1)	ENSP00000394413.1:n.3037-46_3037-42del
ENST00000438045.5:c.2242-46_2242-42del (PEX1)	ENSP00000410438.1:n.2242-46_2242-42del
ENST00000484913.5:n.3247-46_3247-42del (PEX1)
ENST00000496420.5:n.4263-46_4263-42del (PEX1)
NM_000466.2:c.3208-46_3208-42del (PEX1)	NP_000457.1:n.3208-46_3208-42del
NM_001282677.1:c.3037-46_3037-42del (PEX1)	NP_001269606.1:n.3037-46_3037-42del
NM_001282678.1:c.2584-46_2584-42del (PEX1)	NP_001269607.1:n.2584-46_2584-42del
XM_005250433.3:c.1459-46_1459-42del (PEX1)	XP_005250490.1:n.1459-46_1459-42del
XR_242246.3:n.3304-46_3304-42del (PEX1)
XM_017012319.2:c.1459-46_1459-42del (PEX1)	XP_016867808.1:n.1459-46_1459-42del
XR_001744808.2:n.2235-46_2235-42del (PEX1)
XR_001744842.2:n.2583_2587del (GATAD1)
XR_001744843.2:n.2514_2518del (GATAD1)
XR_002956472.1:n.2640_2644del (GATAD1)
XR_002956473.1:n.2671_2675del (GATAD1)
XR_002956474.1:n.2588_2592del (GATAD1)
XR_242246.5:n.3255-46_3255-42del (PEX1)
XR_927494.3:n.1365_1369del (GATAD1)
XR_927500.3:n.1362_1366del (GATAD1)
XR_927503.3:n.1296_1300del (GATAD1)
NM_000466.3:c.3208-46_3208-42del (PEX1) MANE Select	NP_000457.1:n.3208-46_3208-42del
NM_001282677.2:c.3037-46_3037-42del (PEX1)	NP_001269606.1:n.3037-46_3037-42del
NM_001282678.2:c.2584-46_2584-42del (PEX1)	NP_001269607.1:n.2584-46_2584-42del