Canonical Allele Identifier: CA2620507566
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102894659-TTAAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894662_102894665del , CM000674.2:g.102894662_102894665del GRCh38
NC_000012.11:g.103288440_103288443del , CM000674.1:g.103288440_103288443del GRCh37
NC_000012.10:g.101812570_101812573del NCBI36
NG_008690.1:g.27940_27943del
NG_008690.2:g.68748_68751del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.352+72_352+75del MANE Select ENSP00000448059.1:n.352+72_352+75del
ENST00000307000.7:c.337+72_337+75del ENSP00000303500.2:n.337+72_337+75del
ENST00000548928.1:n.274+72_274+75del
ENST00000549111.5:n.448+72_448+75del
ENST00000550978.6:c.336+72_336+75del
ENST00000551337.5:c.352+72_352+75del ENSP00000447620.1:n.352+72_352+75del
ENST00000551988.5:n.441+72_441+75del
ENST00000553106.5:c.352+72_352+75del ENSP00000448059.1:n.352+72_352+75del
NM_000277.1:c.352+72_352+75del NP_000268.1:n.352+72_352+75del
XM_011538422.1:c.352+72_352+75del XP_011536724.1:n.352+72_352+75del
NM_000277.2:c.352+72_352+75del NP_000268.1:n.352+72_352+75del
NM_001354304.1:c.352+72_352+75del NP_001341233.1:n.352+72_352+75del
XM_017019370.2:c.352+72_352+75del XP_016874859.1:n.352+72_352+75del
NM_000277.3:c.352+72_352+75del MANE Select NP_000268.1:n.352+72_352+75del
NM_001354304.2:c.352+72_352+75del NP_001341233.1:n.352+72_352+75del
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