Canonical Allele Identifier: CA951241570
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102840699-GTA-G
gnomAD v4: 12-102840699-GTA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840701_102840702del , CM000674.2:g.102840701_102840702del GRCh38
NC_000012.11:g.103234479_103234480del , CM000674.1:g.103234479_103234480del GRCh37
NC_000012.10:g.101758609_101758610del NCBI36
NG_008690.1:g.81902_81903del
NG_008690.2:g.122710_122711del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-186_1200-185del MANE Select ENSP00000448059.1:n.1200-186_1200-185del
ENST00000307000.7:c.1185-186_1185-185del ENSP00000303500.2:n.1185-186_1185-185del
ENST00000549247.6:n.959-186_959-185del
ENST00000551114.2:n.862-186_862-185del
ENST00000553106.5:c.1200-186_1200-185del ENSP00000448059.1:n.1200-186_1200-185del
ENST00000635477.1:c.304-186_304-185del
ENST00000635528.1:n.715-186_715-185del
NM_000277.1:c.1200-186_1200-185del NP_000268.1:n.1200-186_1200-185del
XM_011538422.1:c.1143-186_1143-185del XP_011536724.1:n.1143-186_1143-185del
NM_000277.2:c.1200-186_1200-185del NP_000268.1:n.1200-186_1200-185del
NM_001354304.1:c.1200-186_1200-185del NP_001341233.1:n.1200-186_1200-185del
NM_000277.3:c.1200-186_1200-185del MANE Select NP_000268.1:n.1200-186_1200-185del
NM_001354304.2:c.1200-186_1200-185del NP_001341233.1:n.1200-186_1200-185del
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