Canonical Allele Identifier: CA2620526871
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102855465-ATT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855467_102855468del , CM000674.2:g.102855467_102855468del GRCh38
NC_000012.11:g.103249245_103249246del , CM000674.1:g.103249245_103249246del GRCh37
NC_000012.10:g.101773375_101773376del NCBI36
NG_008690.1:g.67136_67137del
NG_008690.2:g.107944_107945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-135_510-134del MANE Select ENSP00000448059.1:n.510-135_510-134del
ENST00000307000.7:c.495-135_495-134del ENSP00000303500.2:n.495-135_495-134del
ENST00000549111.5:n.606-135_606-134del
ENST00000551988.5:n.531-135_531-134del
ENST00000553106.5:c.510-135_510-134del ENSP00000448059.1:n.510-135_510-134del
NM_000277.1:c.510-135_510-134del NP_000268.1:n.510-135_510-134del
XM_011538422.1:c.510-135_510-134del XP_011536724.1:n.510-135_510-134del
NM_000277.2:c.510-135_510-134del NP_000268.1:n.510-135_510-134del
NM_001354304.1:c.510-135_510-134del NP_001341233.1:n.510-135_510-134del
XM_017019370.2:c.510-135_510-134del XP_016874859.1:n.510-135_510-134del
NM_000277.3:c.510-135_510-134del MANE Select NP_000268.1:n.510-135_510-134del
NM_001354304.2:c.510-135_510-134del NP_001341233.1:n.510-135_510-134del
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