Canonical Allele Identifier: CA1891553308

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13298103_13298108delinsCATATT , CM000672.2:g.13298103_13298108delinsCATATT	GRCh38
NC_000010.10:g.13340103_13340108delinsCATATT , CM000672.1:g.13340103_13340108delinsCATATT	GRCh37
NC_000010.9:g.13380109_13380114delinsCATATT	NCBI36
NG_012862.1:g.7023_7028delinsAATATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.134+79_134+84delinsAATATG MANE Select	ENSP00000263038.4:n.134+79_134+84delinsAA...
ENST00000263038.8:c.134+79_134+84delinsAATATG	ENSP00000263038.4:n.134+79_134+84delinsAA...
ENST00000396913.6:c.-167+1312_-167+1317delinsAATATG	ENSP00000380121.2:n.-167+1312_-167+1317de...
ENST00000396920.7:c.77+79_77+84delinsAATATG	ENSP00000380126.3:n.77+79_77+84delinsAATA...
ENST00000453759.6:c.-167+79_-167+84delinsAATATG	ENSP00000412525.2:n.-167+79_-167+84delins...
ENST00000463730.1:n.189+79_189+84delinsAATATG
ENST00000479604.1:c.134+79_134+84delinsAATATG	ENSP00000420117.1:n.134+79_134+84delinsAA...
NM_001037537.1:c.-167+1312_-167+1317delinsAATATG	NP_001032626.1:n.-167+1312_-167+1317delin...
NM_006214.3:c.134+79_134+84delinsAATATG	NP_006205.1:n.134+79_134+84delinsAATATG
XM_005252469.2:c.179+79_179+84delinsAATATG	XP_005252526.1:n.179+79_179+84delinsAATAT...
NM_001323080.1:c.-167+79_-167+84delinsAATATG	NP_001310009.1:n.-167+79_-167+84delinsAAT...
NM_001323082.1:c.134+79_134+84delinsAATATG	NP_001310011.1:n.134+79_134+84delinsAATAT...
NM_001323083.1:c.134+79_134+84delinsAATATG	NP_001310012.1:n.134+79_134+84delinsAATAT...
NM_001323084.1:c.-167+1312_-167+1317delinsAATATG	NP_001310013.1:n.-167+1312_-167+1317delin...
NM_006214.4:c.134+79_134+84delinsAATATG MANE Select	NP_006205.1:n.134+79_134+84delinsAATATG
NM_001037537.2:c.-167+1312_-167+1317delinsAATATG	NP_001032626.1:n.-167+1312_-167+1317delin...
NM_001323080.2:c.-167+79_-167+84delinsAATATG	NP_001310009.1:n.-167+79_-167+84delinsAAT...
NM_001323082.2:c.134+79_134+84delinsAATATG	NP_001310011.1:n.134+79_134+84delinsAATAT...
NM_001323083.2:c.134+79_134+84delinsAATATG	NP_001310012.1:n.134+79_134+84delinsAATAT...
NM_001323084.2:c.-167+1312_-167+1317delinsAATATG	NP_001310013.1:n.-167+1312_-167+1317delin...