Canonical Allele Identifier: CA2620508875
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102844545-CTA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844547_102844548del , CM000674.2:g.102844547_102844548del GRCh38
NC_000012.11:g.103238325_103238326del , CM000674.1:g.103238325_103238326del GRCh37
NC_000012.10:g.101762455_101762456del NCBI36
NG_008690.1:g.78056_78057del
NG_008690.2:g.118864_118865del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-116_970-115del MANE Select ENSP00000448059.1:n.970-116_970-115del
ENST00000307000.7:c.955-116_955-115del ENSP00000303500.2:n.955-116_955-115del
ENST00000549247.6:n.729-116_729-115del
ENST00000551114.2:n.632-116_632-115del
ENST00000553106.5:c.970-116_970-115del ENSP00000448059.1:n.970-116_970-115del
ENST00000635477.1:c.74-116_74-115del
ENST00000635528.1:n.485-116_485-115del
NM_000277.1:c.970-116_970-115del NP_000268.1:n.970-116_970-115del
XM_011538422.1:c.913-116_913-115del XP_011536724.1:n.913-116_913-115del
NM_000277.2:c.970-116_970-115del NP_000268.1:n.970-116_970-115del
NM_001354304.1:c.970-116_970-115del NP_001341233.1:n.970-116_970-115del
NM_000277.3:c.970-116_970-115del MANE Select NP_000268.1:n.970-116_970-115del
NM_001354304.2:c.970-116_970-115del NP_001341233.1:n.970-116_970-115del
Search 100 bp 5'
Search 100 bp 3'