Canonical Allele Identifier: CA2697551513
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2705711
ClinVar RCV Id: RCV003496251
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852839_102852850del , CM000674.2:g.102852839_102852850del GRCh38
NC_000012.11:g.103246617_103246628del , CM000674.1:g.103246617_103246628del GRCh37
NC_000012.10:g.101770747_101770758del NCBI36
NG_008690.1:g.69755_69766del
NG_008690.2:g.110563_110574del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.809_820del MANE Select ENSP00000448059.1:p.Arg270_Ser273del
ENST00000307000.7:c.794_805del ENSP00000303500.2:p.Arg265_Ser268del
ENST00000549247.6:n.568_579del
ENST00000553106.5:c.809_820del ENSP00000448059.1:p.Arg270_Ser273del
NM_000277.1:c.809_820del NP_000268.1:p.Arg270_Ser273del
XM_011538422.1:c.809_820del XP_011536724.1:p.Arg270_Ser273del
NM_000277.2:c.809_820del NP_000268.1:p.Arg270_Ser273del
NM_001354304.1:c.809_820del NP_001341233.1:p.Arg270_Ser273del
NM_000277.3:c.809_820del MANE Select NP_000268.1:p.Arg270_Ser273del
NM_001354304.2:c.809_820del NP_001341233.1:p.Arg270_Ser273del
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