Canonical Allele Identifier: CA2365626542

Gene: JPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118728_44118729delinsAC , CM000682.2:g.44118728_44118729delinsAC	GRCh38
NC_000020.10:g.42747368_42747369delinsAC , CM000682.1:g.42747368_42747369delinsAC	GRCh37
NC_000020.9:g.42180782_42180783delinsAC	NCBI36
NG_031867.1:g.73850_73851delinsGT , LRG_394:g.73850_73851delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1170-106_1170-105delinsGT MANE Select	ENSP00000362071.3:n.1170-106_1170-105delinsGT
ENST00000372980.3:c.1170-106_1170-105delinsGT	ENSP00000362071.3:n.1170-106_1170-105delinsGT
NM_020433.4:c.1170-106_1170-105delinsGT , LRG_394t1:c.1170-106_1170-105delinsGT	NP_065166.2:n.1170-106_1170-105delinsGT
XM_006723832.2:c.1170-106_1170-105delinsGT	XP_006723895.1:n.1170-106_1170-105delinsGT
NM_020433.5:c.1170-106_1170-105delinsGT MANE Select	NP_065166.2:n.1170-106_1170-105delinsGT