Canonical Allele Identifier: CA548498935

Gene: P3H2

Linked Data

• dbSNP Id: rs1560354203
• gnomAD v2: 3-189713344-G-GGGT
• gnomAD v3: 3-189995555-G-GGGT
• gnomAD v4: 3-189995555-G-GGGT
• MyVariant Identifiers: chr3:g.189713344_189713345insGGT (hg19) ; chr3:g.189995555_189995556insGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995556_189995557insGTG , CM000665.2:g.189995556_189995557insGTG	GRCh38
NC_000003.11:g.189713345_189713346insGTG , CM000665.1:g.189713345_189713346insGTG	GRCh37
NC_000003.10:g.191196039_191196040insGTG	NCBI36
NG_031929.1:g.131882_131883insACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-114_481-113insACC MANE Select	ENSP00000316881.5:n.481-114_481-113insACC
ENST00000319332.9:c.481-114_481-113insACC	ENSP00000316881.5:n.481-114_481-113insACC
ENST00000426003.1:c.-63-114_-63-113insACC	ENSP00000394326.1:n.-63-114_-63-113insACC
ENST00000427335.6:c.-63-114_-63-113insACC	ENSP00000408947.2:n.-63-114_-63-113insACC
ENST00000444866.5:c.-63-114_-63-113insACC	ENSP00000391374.1:n.-63-114_-63-113insACC
NM_001134418.1:c.-63-114_-63-113insACC	NP_001127890.1:n.-63-114_-63-113insACC
NM_018192.3:c.481-114_481-113insACC	NP_060662.2:n.481-114_481-113insACC
XM_011512955.1:c.-63-114_-63-113insACC	XP_011511257.1:n.-63-114_-63-113insACC
NM_018192.4:c.481-114_481-113insACC MANE Select	NP_060662.2:n.481-114_481-113insACC
NM_001134418.2:c.-63-114_-63-113insACC	NP_001127890.1:n.-63-114_-63-113insACC