Canonical Allele Identifier: CA2366499597

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056435_46056438delinsAGGG , CM000682.2:g.46056435_46056438delinsAGGG	GRCh38
NC_000020.10:g.44685074_44685077delinsAGGG , CM000682.1:g.44685074_44685077delinsAGGG	GRCh37
NC_000020.9:g.44118481_44118484delinsAGGG	NCBI36
NG_046341.1:g.39746_39749delinsAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2981_2984delinsAGGG MANE Select	ENSP00000243964.4:p.Glu994=
ENST00000243964.6:c.2981_2984delinsAGGG	ENSP00000243964.3:p.Glu994=
ENST00000454036.6:c.3050_3053delinsAGGG	ENSP00000387694.1:p.Glu1017=
ENST00000616201.4:c.1298-2221_1298-2218delinsAGGG	ENSP00000484585.1:n.1298-2221_1298-2218delinsAGGG
ENST00000616202.4:c.613-2046_613-2043delinsAGGG	ENSP00000478369.1:n.613-2046_613-2043delinsAGGG
ENST00000616933.4:c.*2299_*2302delinsAGGG	ENSP00000477569.1:n.*2299_*2302delinsAGGG
ENST00000626937.2:c.510-3164_510-3161delinsAGGG	ENSP00000485953.1:n.510-3164_510-3161delinsAGGG
ENST00000628413.1:n.497_500delinsAGGG
NM_001134771.1:c.3050_3053delinsAGGG	NP_001128243.1:p.Glu1017=
NM_020708.4:c.2981_2984delinsAGGG	NP_065759.1:p.Glu994=
XM_017027981.1:c.3050_3053delinsAGGG	XP_016883470.1:p.Glu1017=
NM_001134771.2:c.3050_3053delinsAGGG	NP_001128243.1:p.Glu1017=
NM_020708.5:c.2981_2984delinsAGGG MANE Select	NP_065759.1:p.Glu994=