Canonical Allele Identifier: CA2620508268
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102844312-CCTTGGTTCCTGTGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844313_102844326del , CM000674.2:g.102844313_102844326del GRCh38
NC_000012.11:g.103238091_103238104del , CM000674.1:g.103238091_103238104del GRCh37
NC_000012.10:g.101762221_101762234del NCBI36
NG_008690.1:g.78277_78290del
NG_008690.2:g.119085_119098del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1065+10_1065+23del MANE Select ENSP00000448059.1:n.1065+10_1065+23del
ENST00000307000.7:c.1050+10_1050+23del ENSP00000303500.2:n.1050+10_1050+23del
ENST00000549247.6:n.824+10_824+23del
ENST00000551114.2:n.727+10_727+23del
ENST00000553106.5:c.1065+10_1065+23del ENSP00000448059.1:n.1065+10_1065+23del
ENST00000635477.1:c.169+10_169+23del
ENST00000635528.1:n.580+10_580+23del
NM_000277.1:c.1065+10_1065+23del NP_000268.1:n.1065+10_1065+23del
XM_011538422.1:c.1008+10_1008+23del XP_011536724.1:n.1008+10_1008+23del
NM_000277.2:c.1065+10_1065+23del NP_000268.1:n.1065+10_1065+23del
NM_001354304.1:c.1065+10_1065+23del NP_001341233.1:n.1065+10_1065+23del
NM_000277.3:c.1065+10_1065+23del MANE Select NP_000268.1:n.1065+10_1065+23del
NM_001354304.2:c.1065+10_1065+23del NP_001341233.1:n.1065+10_1065+23del
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