Canonical Allele Identifier: CA2620526870
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102855463-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855463_102855464insG , CM000674.2:g.102855463_102855464insG GRCh38
NC_000012.11:g.103249241_103249242insG , CM000674.1:g.103249241_103249242insG GRCh37
NC_000012.10:g.101773371_101773372insG NCBI36
NG_008690.1:g.67139_67140insC
NG_008690.2:g.107947_107948insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-132_510-131insC MANE Select ENSP00000448059.1:n.510-132_510-131insC
ENST00000307000.7:c.495-132_495-131insC ENSP00000303500.2:n.495-132_495-131insC
ENST00000549111.5:n.606-132_606-131insC
ENST00000551988.5:n.531-132_531-131insC
ENST00000553106.5:c.510-132_510-131insC ENSP00000448059.1:n.510-132_510-131insC
NM_000277.1:c.510-132_510-131insC NP_000268.1:n.510-132_510-131insC
XM_011538422.1:c.510-132_510-131insC XP_011536724.1:n.510-132_510-131insC
NM_000277.2:c.510-132_510-131insC NP_000268.1:n.510-132_510-131insC
NM_001354304.1:c.510-132_510-131insC NP_001341233.1:n.510-132_510-131insC
XM_017019370.2:c.510-132_510-131insC XP_016874859.1:n.510-132_510-131insC
NM_000277.3:c.510-132_510-131insC MANE Select NP_000268.1:n.510-132_510-131insC
NM_001354304.2:c.510-132_510-131insC NP_001341233.1:n.510-132_510-131insC
Search 100 bp 5'
Search 100 bp 3'