Canonical Allele Identifier: CA2059442222
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840571_102840572delinsTA , CM000674.2:g.102840571_102840572delinsTA GRCh38
NC_000012.11:g.103234349_103234350delinsTA , CM000674.1:g.103234349_103234350delinsTA GRCh37
NC_000012.10:g.101758479_101758480delinsTA NCBI36
NG_008690.1:g.82031_82032delinsTA
NG_008690.2:g.122839_122840delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-57_1200-56delinsTA MANE Select ENSP00000448059.1:n.1200-57_1200-56delinsTA
ENST00000307000.7:c.1185-57_1185-56delinsTA ENSP00000303500.2:n.1185-57_1185-56delinsTA
ENST00000549247.6:n.959-57_959-56delinsTA
ENST00000551114.2:n.862-57_862-56delinsTA
ENST00000553106.5:c.1200-57_1200-56delinsTA ENSP00000448059.1:n.1200-57_1200-56delinsTA
ENST00000635477.1:c.304-57_304-56delinsTA
ENST00000635528.1:n.715-57_715-56delinsTA
NM_000277.1:c.1200-57_1200-56delinsTA NP_000268.1:n.1200-57_1200-56delinsTA
XM_011538422.1:c.1143-57_1143-56delinsTA XP_011536724.1:n.1143-57_1143-56delinsTA
NM_000277.2:c.1200-57_1200-56delinsTA NP_000268.1:n.1200-57_1200-56delinsTA
NM_001354304.1:c.1200-57_1200-56delinsTA NP_001341233.1:n.1200-57_1200-56delinsTA
NM_000277.3:c.1200-57_1200-56delinsTA MANE Select NP_000268.1:n.1200-57_1200-56delinsTA
NM_001354304.2:c.1200-57_1200-56delinsTA NP_001341233.1:n.1200-57_1200-56delinsTA
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