Canonical Allele Identifier: CA2601918194
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136636560
gnomAD v3: 12-102844250-AGG-A
gnomAD v4: 12-102844250-AGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844252_102844253del , CM000674.2:g.102844252_102844253del GRCh38
NC_000012.11:g.103238030_103238031del , CM000674.1:g.103238030_103238031del GRCh37
NC_000012.10:g.101762160_101762161del NCBI36
NG_008690.1:g.78351_78352del
NG_008690.2:g.119159_119160del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1065+84_1065+85del MANE Select ENSP00000448059.1:n.1065+84_1065+85del
ENST00000307000.7:c.1050+84_1050+85del ENSP00000303500.2:n.1050+84_1050+85del
ENST00000549247.6:n.824+84_824+85del
ENST00000551114.2:n.727+84_727+85del
ENST00000553106.5:c.1065+84_1065+85del ENSP00000448059.1:n.1065+84_1065+85del
ENST00000635477.1:c.169+84_169+85del
ENST00000635528.1:n.580+84_580+85del
NM_000277.1:c.1065+84_1065+85del NP_000268.1:n.1065+84_1065+85del
XM_011538422.1:c.1008+84_1008+85del XP_011536724.1:n.1008+84_1008+85del
NM_000277.2:c.1065+84_1065+85del NP_000268.1:n.1065+84_1065+85del
NM_001354304.1:c.1065+84_1065+85del NP_001341233.1:n.1065+84_1065+85del
NM_000277.3:c.1065+84_1065+85del MANE Select NP_000268.1:n.1065+84_1065+85del
NM_001354304.2:c.1065+84_1065+85del NP_001341233.1:n.1065+84_1065+85del
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