Canonical Allele Identifier: CA607927709
Gene: HPD HGNC NCBI
TIALD HGNC NCBI

Linked Data

dbSNP Id: rs1268402348
gnomAD v2: 12-122295366-AT-A
gnomAD v3: 12-121857460-AT-A
gnomAD v4: 12-121857460-AT-A
MyVariant Identifiers: chr12:g.122295367del (hg19) chr12:g.121857461del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121857461del , CM000674.2:g.121857461del GRCh38
NC_000012.11:g.122295367del , CM000674.1:g.122295367del GRCh37
NC_000012.10:g.120779750del NCBI36
NG_016461.1:g.36151del

Transcript Alleles

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