Canonical Allele Identifier: CA2620511117
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917301-TTG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917303_102917304del , CM000674.2:g.102917303_102917304del GRCh38
NC_000012.11:g.103311081_103311082del , CM000674.1:g.103311081_103311082del GRCh37
NC_000012.10:g.101835211_101835212del NCBI36
NG_008690.1:g.5301_5302del
NG_008690.2:g.46108_46109del

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-78_493-77del
ENST00000546844.1:c.-95-78_-95-77del ENSP00000446658.1:n.-95-78_-95-77del
ENST00000547319.1:n.217-78_217-77del
ENST00000551337.5:c.-95-78_-95-77del ENSP00000447620.1:n.-95-78_-95-77del
ENST00000553106.5:c.-173_-172del ENSP00000448059.1:n.-173_-172del
ENST00000635500.1:n.29-4405_29-4404del
NM_000277.1:c.-172_-171del NP_000268.1:n.-172_-171del
NM_000277.2:c.-173_-172del NP_000268.1:n.-173_-172del
NM_001354304.1:c.-95-78_-95-77del NP_001341233.1:n.-95-78_-95-77del
NM_001354304.2:c.-95-78_-95-77del NP_001341233.1:n.-95-78_-95-77del
Search 100 bp 5'
Search 100 bp 3'