Canonical Allele Identifier: CA2632120778

Gene: PDILT

Linked Data

• gnomAD v4: 16-20389056-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20389058del , CM000678.2:g.20389058del	GRCh38
NC_000016.9:g.20400380del , CM000678.1:g.20400380del	GRCh37
NC_000016.8:g.20307881del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302451.9:c.203-4206del MANE Select	ENSP00000305465.4:n.203-4206del
ENST00000302451.8:c.203-4206del	ENSP00000305465.4:n.203-4206del
ENST00000575561.1:c.203-148del	ENSP00000459161.1:n.203-148del
NM_174924.1:c.203-4206del	NP_777584.1:n.203-4206del
XM_006721024.1:c.203-4206del	XP_006721087.1:n.203-4206del
XM_011545764.1:c.203-4206del	XP_011544066.1:n.203-4206del
XM_011545765.1:c.203-4206del	XP_011544067.1:n.203-4206del
XR_950754.1:n.457-4206del
NM_174924.2:c.203-4206del MANE Select	NP_777584.1:n.203-4206del