Canonical Allele Identifier: CA2683717193

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491671-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491673_92491674del , CM000669.2:g.92491673_92491674del	GRCh38
NC_000007.13:g.92120987_92120988del , CM000669.1:g.92120987_92120988del	GRCh37
NC_000007.12:g.91958923_91958924del	NCBI36
NG_008341.1:g.41859_41860del
NG_008341.2:g.41859_41860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-171_3208-170del (PEX1) MANE Select	ENSP00000248633.4:n.3208-171_3208-170del
ENST00000248633.8:c.3208-171_3208-170del (PEX1)	ENSP00000248633.4:n.3208-171_3208-170del
ENST00000428214.5:c.3037-171_3037-170del (PEX1)	ENSP00000394413.1:n.3037-171_3037-170del
ENST00000438045.5:c.2242-171_2242-170del (PEX1)	ENSP00000410438.1:n.2242-171_2242-170del
ENST00000484913.5:n.3247-171_3247-170del (PEX1)
ENST00000496420.5:n.4263-171_4263-170del (PEX1)
NM_000466.2:c.3208-171_3208-170del (PEX1)	NP_000457.1:n.3208-171_3208-170del
NM_001282677.1:c.3037-171_3037-170del (PEX1)	NP_001269606.1:n.3037-171_3037-170del
NM_001282678.1:c.2584-171_2584-170del (PEX1)	NP_001269607.1:n.2584-171_2584-170del
XM_005250433.3:c.1459-171_1459-170del (PEX1)	XP_005250490.1:n.1459-171_1459-170del
XR_242246.3:n.3304-171_3304-170del (PEX1)
XM_017012319.2:c.1459-171_1459-170del (PEX1)	XP_016867808.1:n.1459-171_1459-170del
XR_001744808.2:n.2235-171_2235-170del (PEX1)
XR_001744842.2:n.2711_2712del (GATAD1)
XR_001744843.2:n.2642_2643del (GATAD1)
XR_002956472.1:n.2768_2769del (GATAD1)
XR_002956473.1:n.2799_2800del (GATAD1)
XR_002956474.1:n.2716_2717del (GATAD1)
XR_242246.5:n.3255-171_3255-170del (PEX1)
XR_927494.3:n.1493_1494del (GATAD1)
XR_927500.3:n.1490_1491del (GATAD1)
XR_927503.3:n.1424_1425del (GATAD1)
NM_000466.3:c.3208-171_3208-170del (PEX1) MANE Select	NP_000457.1:n.3208-171_3208-170del
NM_001282677.2:c.3037-171_3037-170del (PEX1)	NP_001269606.1:n.3037-171_3037-170del
NM_001282678.2:c.2584-171_2584-170del (PEX1)	NP_001269607.1:n.2584-171_2584-170del