Canonical Allele Identifier: CA229856
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102900
ClinVar RCV Id: RCV000089163 RCV001240978
dbSNP Id: rs62651568
gnomAD v2: 12-103240701-GGTGCACCCAGA-G
gnomAD v4: 12-102846923-GGTGCACCCAGA-G
MyVariant Identifiers: chr12:g.103240703_103240713del (hg19) chr12:g.103240702_103240712del (hg19) chr12:g.102846925_102846935del (hg38) chr12:g.102846924_102846934del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846925_102846935del , CM000674.2:g.102846925_102846935del GRCh38
NC_000012.11:g.103240703_103240713del , CM000674.1:g.103240703_103240713del GRCh37
NC_000012.10:g.101764833_101764843del NCBI36
NG_008690.1:g.75669_75679del
NG_008690.2:g.116477_116487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.930_940del MANE Select ENSP00000448059.1:p.Leu311Ter
ENST00000307000.7:c.915_925del ENSP00000303500.2:p.Leu306Ter
ENST00000549247.6:n.689_699del
ENST00000551114.2:n.592_602del
ENST00000553106.5:c.930_940del ENSP00000448059.1:p.Leu311Ter
ENST00000635477.1:c.74-2503_74-2493del
ENST00000635528.1:n.445_455del
NM_000277.1:c.930_940del NP_000268.1:p.Leu311Ter
XM_011538422.1:c.913-2503_913-2493del XP_011536724.1:n.913-2503_913-2493del
NM_000277.2:c.930_940del NP_000268.1:p.Leu311Ter
NM_001354304.1:c.930_940del NP_001341233.1:p.Leu311Ter
NM_000277.3:c.930_940del MANE Select NP_000268.1:p.Leu311Ter
NM_001354304.2:c.930_940del NP_001341233.1:p.Leu311Ter
Search 100 bp 5'
Search 100 bp 3'