Canonical Allele Identifier: CA2620508285
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102894858-A-ACTC
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894859_102894861dup , CM000674.2:g.102894859_102894861dup GRCh38
NC_000012.11:g.103288637_103288639dup , CM000674.1:g.103288637_103288639dup GRCh37
NC_000012.10:g.101812767_101812769dup NCBI36
NG_008690.1:g.27742_27744dup
NG_008690.2:g.68550_68552dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.226_228dup MANE Select ENSP00000448059.1:p.Glu76_Tyr77insGlu
ENST00000307000.7:c.211_213dup ENSP00000303500.2:p.Glu71_Tyr72insGlu
ENST00000546844.1:c.226_228dup ENSP00000446658.1:p.Glu76_Tyr77insGlu
ENST00000548677.2:n.313_315dup
ENST00000548928.1:n.148_150dup
ENST00000549111.5:n.322_324dup
ENST00000550978.6:c.210_212dup
ENST00000551337.5:c.226_228dup ENSP00000447620.1:p.Glu76_Tyr77insGlu
ENST00000551988.5:n.315_317dup
ENST00000553106.5:c.226_228dup ENSP00000448059.1:p.Glu76_Tyr77insGlu
NM_000277.1:c.226_228dup NP_000268.1:p.Glu76_Tyr77insGlu
XM_011538422.1:c.226_228dup XP_011536724.1:p.Glu76_Tyr77insGlu
NM_000277.2:c.226_228dup NP_000268.1:p.Glu76_Tyr77insGlu
NM_001354304.1:c.226_228dup NP_001341233.1:p.Glu76_Tyr77insGlu
XM_017019370.2:c.226_228dup XP_016874859.1:p.Glu76_Tyr77insGlu
NM_000277.3:c.226_228dup MANE Select NP_000268.1:p.Glu76_Tyr77insGlu
NM_001354304.2:c.226_228dup NP_001341233.1:p.Glu76_Tyr77insGlu
Search 100 bp 5'
Search 100 bp 3'