Canonical Allele Identifier: CA2608290816

Gene: PHYH

Linked Data

• gnomAD v4: 10-13283592-TTAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283594_13283598del , CM000672.2:g.13283594_13283598del	GRCh38
NC_000010.10:g.13325594_13325598del , CM000672.1:g.13325594_13325598del	GRCh37
NC_000010.9:g.13365600_13365604del	NCBI36
NG_012862.1:g.21534_21538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.828+93_828+97del MANE Select	ENSP00000263038.4:n.828+93_828+97del
ENST00000263038.8:c.828+93_828+97del	ENSP00000263038.4:n.828+93_828+97del
ENST00000396913.6:c.528+93_528+97del	ENSP00000380121.2:n.528+93_528+97del
ENST00000396920.7:c.777+93_777+97del	ENSP00000380126.3:n.777+93_777+97del
NM_001037537.1:c.528+93_528+97del	NP_001032626.1:n.528+93_528+97del
NM_006214.3:c.828+93_828+97del	NP_006205.1:n.828+93_828+97del
XM_005252469.2:c.609+93_609+97del	XP_005252526.1:n.609+93_609+97del
NM_001323080.1:c.528+93_528+97del	NP_001310009.1:n.528+93_528+97del
NM_001323082.1:c.834+93_834+97del	NP_001310011.1:n.834+93_834+97del
NM_001323083.1:c.564+93_564+97del	NP_001310012.1:n.564+93_564+97del
NM_001323084.1:c.534+93_534+97del	NP_001310013.1:n.534+93_534+97del
NM_006214.4:c.828+93_828+97del MANE Select	NP_006205.1:n.828+93_828+97del
NM_001037537.2:c.528+93_528+97del	NP_001032626.1:n.528+93_528+97del
NM_001323080.2:c.528+93_528+97del	NP_001310009.1:n.528+93_528+97del
NM_001323082.2:c.834+93_834+97del	NP_001310011.1:n.834+93_834+97del
NM_001323083.2:c.564+93_564+97del	NP_001310012.1:n.564+93_564+97del
NM_001323084.2:c.534+93_534+97del	NP_001310013.1:n.534+93_534+97del