Canonical Allele Identifier: CA621254711

Gene: PDILT

Linked Data

• dbSNP Id: rs1391290590
• gnomAD v2: 16-20400997-TAG-T
• gnomAD v3: 16-20389675-TAG-T
• gnomAD v4: 16-20389675-TAG-T
• MyVariant Identifiers: chr16:g.20400998_20400999del (hg19) ; chr16:g.20389676_20389677del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20389677_20389678del , CM000678.2:g.20389677_20389678del	GRCh38
NC_000016.9:g.20400999_20401000del , CM000678.1:g.20400999_20401000del	GRCh37
NC_000016.8:g.20308500_20308501del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302451.9:c.203-4826_203-4825del MANE Select	ENSP00000305465.4:n.203-4826_203-4825del
ENST00000302451.8:c.203-4826_203-4825del	ENSP00000305465.4:n.203-4826_203-4825del
ENST00000575561.1:c.203-768_203-767del	ENSP00000459161.1:n.203-768_203-767del
NM_174924.1:c.203-4826_203-4825del	NP_777584.1:n.203-4826_203-4825del
XM_006721024.1:c.203-4826_203-4825del	XP_006721087.1:n.203-4826_203-4825del
XM_011545764.1:c.203-4826_203-4825del	XP_011544066.1:n.203-4826_203-4825del
XM_011545765.1:c.203-4826_203-4825del	XP_011544067.1:n.203-4826_203-4825del
XR_950754.1:n.457-4826_457-4825del
NM_174924.2:c.203-4826_203-4825del MANE Select	NP_777584.1:n.203-4826_203-4825del