Canonical Allele Identifier: CA912973338
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103234198_103234200del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840420_102840422del , CM000674.2:g.102840420_102840422del GRCh38
NC_000012.11:g.103234198_103234200del , CM000674.1:g.103234198_103234200del GRCh37
NC_000012.10:g.101758328_101758330del NCBI36
NG_008690.1:g.82181_82183del
NG_008690.2:g.122989_122991del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1293_1295del MANE Select ENSP00000448059.1:p.Lys431_Ile432delinsAs...
ENST00000307000.7:c.1278_1280del ENSP00000303500.2:p.Lys426_Ile427delinsAs...
ENST00000551114.2:n.955_957del
ENST00000553106.5:c.1293_1295del ENSP00000448059.1:p.Lys431_Ile432delinsAs...
ENST00000635477.1:c.397_399del
ENST00000635528.1:n.808_810del
NM_000277.1:c.1293_1295del NP_000268.1:p.Lys431_Ile432delinsAsn
XM_011538422.1:c.1236_1238del XP_011536724.1:p.Lys412_Ile413delinsAsn
NM_000277.2:c.1293_1295del NP_000268.1:p.Lys431_Ile432delinsAsn
NM_001354304.1:c.1293_1295del NP_001341233.1:p.Lys431_Ile432delinsAsn
NM_000277.3:c.1293_1295del MANE Select NP_000268.1:p.Lys431_Ile432delinsAsn
NM_001354304.2:c.1293_1295del NP_001341233.1:p.Lys431_Ile432delinsAsn
Search 100 bp 5'
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