Canonical Allele Identifier: CA2059462358
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1876608482
gnomAD v4: 12-102877295-CAATA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877298_102877301del , CM000674.2:g.102877298_102877301del GRCh38
NC_000012.11:g.103271076_103271079del , CM000674.1:g.103271076_103271079del GRCh37
NC_000012.10:g.101795206_101795209del NCBI36
NG_008690.1:g.45304_45307del
NG_008690.2:g.86112_86115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+163_441+166del MANE Select ENSP00000448059.1:n.441+163_441+166del
ENST00000307000.7:c.426+163_426+166del ENSP00000303500.2:n.426+163_426+166del
ENST00000549111.5:n.537+163_537+166del
ENST00000550978.6:c.588_591del
ENST00000551988.5:n.530+163_530+166del
ENST00000553106.5:c.441+163_441+166del ENSP00000448059.1:n.441+163_441+166del
NM_000277.1:c.441+163_441+166del NP_000268.1:n.441+163_441+166del
XM_011538422.1:c.441+163_441+166del XP_011536724.1:n.441+163_441+166del
NM_000277.2:c.441+163_441+166del NP_000268.1:n.441+163_441+166del
NM_001354304.1:c.441+163_441+166del NP_001341233.1:n.441+163_441+166del
XM_017019370.2:c.441+163_441+166del XP_016874859.1:n.441+163_441+166del
NM_000277.3:c.441+163_441+166del MANE Select NP_000268.1:n.441+163_441+166del
NM_001354304.2:c.441+163_441+166del NP_001341233.1:n.441+163_441+166del
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