Canonical Allele Identifier: CA2366499622

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056500_46056503delinsGAGA , CM000682.2:g.46056500_46056503delinsGAGA	GRCh38
NC_000020.10:g.44685139_44685142delinsGAGA , CM000682.1:g.44685139_44685142delinsGAGA	GRCh37
NC_000020.9:g.44118546_44118549delinsGAGA	NCBI36
NG_046341.1:g.39811_39814delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3046_3049delinsGAGA MANE Select	ENSP00000243964.4:p.Glu1016=
ENST00000243964.6:c.3046_3049delinsGAGA	ENSP00000243964.3:p.Glu1016=
ENST00000454036.6:c.3115_3118delinsGAGA	ENSP00000387694.1:p.Glu1039=
ENST00000616201.4:c.1298-2156_1298-2153delinsGAGA	ENSP00000484585.1:n.1298-2156_1298-2153delinsGAGA
ENST00000616202.4:c.613-1981_613-1978delinsGAGA	ENSP00000478369.1:n.613-1981_613-1978delinsGAGA
ENST00000616933.4:c.*2364_*2367delinsGAGA	ENSP00000477569.1:n.*2364_*2367delinsGAGA
ENST00000626937.2:c.510-3099_510-3096delinsGAGA	ENSP00000485953.1:n.510-3099_510-3096delinsGAGA
ENST00000628413.1:n.562_565delinsGAGA
NM_001134771.1:c.3115_3118delinsGAGA	NP_001128243.1:p.Glu1039=
NM_020708.4:c.3046_3049delinsGAGA	NP_065759.1:p.Glu1016=
XM_017027981.1:c.3115_3118delinsGAGA	XP_016883470.1:p.Glu1039=
NM_001134771.2:c.3115_3118delinsGAGA	NP_001128243.1:p.Glu1039=
NM_020708.5:c.3046_3049delinsGAGA MANE Select	NP_065759.1:p.Glu1016=