Canonical Allele Identifier: CA975486876
Gene: PDILT HGNC NCBI

Linked Data

gnomAD v3: 16-20389679-T-TCTCG
gnomAD v4: 16-20389679-T-TCTCG
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20389679_20389680insCTCG , CM000678.2:g.20389679_20389680insCTCG GRCh38
NC_000016.9:g.20401001_20401002insCTCG , CM000678.1:g.20401001_20401002insCTCG GRCh37
NC_000016.8:g.20308502_20308503insCTCG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302451.9:c.203-4829_203-4828insCGAG MANE Select ENSP00000305465.4:n.203-4829_203-4828insCGAG
ENST00000302451.8:c.203-4829_203-4828insCGAG ENSP00000305465.4:n.203-4829_203-4828insCGAG
ENST00000575561.1:c.203-771_203-770insCGAG ENSP00000459161.1:n.203-771_203-770insCGAG
NM_174924.1:c.203-4829_203-4828insCGAG NP_777584.1:n.203-4829_203-4828insCGAG
XM_006721024.1:c.203-4829_203-4828insCGAG XP_006721087.1:n.203-4829_203-4828insCGAG
XM_011545764.1:c.203-4829_203-4828insCGAG XP_011544066.1:n.203-4829_203-4828insCGAG
XM_011545765.1:c.203-4829_203-4828insCGAG XP_011544067.1:n.203-4829_203-4828insCGAG
XR_950754.1:n.457-4829_457-4828insCGAG
NM_174924.2:c.203-4829_203-4828insCGAG MANE Select NP_777584.1:n.203-4829_203-4828insCGAG
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