Canonical Allele Identifier: CA5412476

Gene: PHYH

Linked Data

• dbSNP Id: rs773721298
• ExAC: 10:13340150 CATAAT / C
• gnomAD v2: 10-13340150-CATAAT-C
• gnomAD v4: 10-13298150-CATAAT-C
• MyVariant Identifiers: chr10:g.13340154_13340158del (hg19) ; chr10:g.13340151_13340155del (hg19) ; chr10:g.13298151_13298155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13298154_13298158del , CM000672.2:g.13298154_13298158del	GRCh38
NC_000010.10:g.13340154_13340158del , CM000672.1:g.13340154_13340158del	GRCh37
NC_000010.9:g.13380160_13380164del	NCBI36
NG_012862.1:g.6976_6980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.134+32_134+36del MANE Select	ENSP00000263038.4:n.134+32_134+36del
ENST00000263038.8:c.134+32_134+36del	ENSP00000263038.4:n.134+32_134+36del
ENST00000396913.6:c.-167+1265_-167+1269del	ENSP00000380121.2:n.-167+1265_-167+1269del
ENST00000396920.7:c.77+32_77+36del	ENSP00000380126.3:n.77+32_77+36del
ENST00000453759.6:c.-167+32_-167+36del	ENSP00000412525.2:n.-167+32_-167+36del
ENST00000463730.1:n.189+32_189+36del
ENST00000479604.1:c.134+32_134+36del	ENSP00000420117.1:n.134+32_134+36del
NM_001037537.1:c.-167+1265_-167+1269del	NP_001032626.1:n.-167+1265_-167+1269del
NM_006214.3:c.134+32_134+36del	NP_006205.1:n.134+32_134+36del
XM_005252469.2:c.179+32_179+36del	XP_005252526.1:n.179+32_179+36del
NM_001323080.1:c.-167+32_-167+36del	NP_001310009.1:n.-167+32_-167+36del
NM_001323082.1:c.134+32_134+36del	NP_001310011.1:n.134+32_134+36del
NM_001323083.1:c.134+32_134+36del	NP_001310012.1:n.134+32_134+36del
NM_001323084.1:c.-167+1265_-167+1269del	NP_001310013.1:n.-167+1265_-167+1269del
NM_006214.4:c.134+32_134+36del MANE Select	NP_006205.1:n.134+32_134+36del
NM_001037537.2:c.-167+1265_-167+1269del	NP_001032626.1:n.-167+1265_-167+1269del
NM_001323080.2:c.-167+32_-167+36del	NP_001310009.1:n.-167+32_-167+36del
NM_001323082.2:c.134+32_134+36del	NP_001310011.1:n.134+32_134+36del
NM_001323083.2:c.134+32_134+36del	NP_001310012.1:n.134+32_134+36del
NM_001323084.2:c.-167+1265_-167+1269del	NP_001310013.1:n.-167+1265_-167+1269del