Canonical Allele Identifier: CA2620527050
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102840627-GAGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840630_102840632del , CM000674.2:g.102840630_102840632del GRCh38
NC_000012.11:g.103234408_103234410del , CM000674.1:g.103234408_103234410del GRCh37
NC_000012.10:g.101758538_101758540del NCBI36
NG_008690.1:g.81973_81975del
NG_008690.2:g.122781_122783del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-115_1200-113del MANE Select ENSP00000448059.1:n.1200-115_1200-113del
ENST00000307000.7:c.1185-115_1185-113del ENSP00000303500.2:n.1185-115_1185-113del
ENST00000549247.6:n.959-115_959-113del
ENST00000551114.2:n.862-115_862-113del
ENST00000553106.5:c.1200-115_1200-113del ENSP00000448059.1:n.1200-115_1200-113del
ENST00000635477.1:c.304-115_304-113del
ENST00000635528.1:n.715-115_715-113del
NM_000277.1:c.1200-115_1200-113del NP_000268.1:n.1200-115_1200-113del
XM_011538422.1:c.1143-115_1143-113del XP_011536724.1:n.1143-115_1143-113del
NM_000277.2:c.1200-115_1200-113del NP_000268.1:n.1200-115_1200-113del
NM_001354304.1:c.1200-115_1200-113del NP_001341233.1:n.1200-115_1200-113del
NM_000277.3:c.1200-115_1200-113del MANE Select NP_000268.1:n.1200-115_1200-113del
NM_001354304.2:c.1200-115_1200-113del NP_001341233.1:n.1200-115_1200-113del
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