Canonical Allele Identifier: CA2068102561
Gene: HPD HGNC NCBI
TIALD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857460_121857461delinsAT , CM000674.2:g.121857460_121857461delinsAT GRCh38
NC_000012.11:g.122295366_122295367delinsAT , CM000674.1:g.122295366_122295367delinsAT GRCh37
NC_000012.10:g.120779749_120779750delinsAT NCBI36
NG_016461.1:g.36151_36152delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.94-29_94-28delinsAT (HPD) MANE Select ENSP00000289004.4:n.94-29_94-28delinsAT
ENST00000535114.1:n.421_422delinsAT (HPD)
ENST00000542159.2:n.123_124delinsAT (HPD)
ENST00000543163.5:c.-24-29_-24-28delinsAT (HPD) ENSP00000441677.1:n.-24-29_-24-28delinsAT
NM_001171993.1:c.-24-29_-24-28delinsAT (HPD) NP_001165464.1:n.-24-29_-24-28delinsAT
NM_002150.2:c.94-29_94-28delinsAT (HPD) NP_002141.1:n.94-29_94-28delinsAT
XR_002957437.1:n.324-159_324-158delinsAT (TIALD)
NM_002150.3:c.94-29_94-28delinsAT (HPD) MANE Select NP_002141.2:n.94-29_94-28delinsAT
NM_001171993.2:c.-24-29_-24-28delinsAT (HPD) NP_001165464.1:n.-24-29_-24-28delinsAT
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