Canonical Allele Identifier: CA2366499534

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056280_46056281delinsGC , CM000682.2:g.46056280_46056281delinsGC	GRCh38
NC_000020.10:g.44684919_44684920delinsGC , CM000682.1:g.44684919_44684920delinsGC	GRCh37
NC_000020.9:g.44118326_44118327delinsGC	NCBI36
NG_046341.1:g.39591_39592delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2910+8_2910+9delinsGC MANE Select	ENSP00000243964.4:n.2910+8_2910+9delinsGC
ENST00000243964.6:c.2910+8_2910+9delinsGC	ENSP00000243964.3:n.2910+8_2910+9delinsGC
ENST00000454036.6:c.2979+8_2979+9delinsGC	ENSP00000387694.1:n.2979+8_2979+9delinsGC
ENST00000616201.4:c.1298-2376_1298-2375delinsGC	ENSP00000484585.1:n.1298-2376_1298-2375delinsGC
ENST00000616202.4:c.613-2201_613-2200delinsGC	ENSP00000478369.1:n.613-2201_613-2200delinsGC
ENST00000616933.4:c.*2228+8_*2228+9delinsGC	ENSP00000477569.1:n.*2228+8_*2228+9delinsGC
ENST00000626937.2:c.510-3319_510-3318delinsGC	ENSP00000485953.1:n.510-3319_510-3318delinsGC
ENST00000628413.1:n.426+8_426+9delinsGC
NM_001134771.1:c.2979+8_2979+9delinsGC	NP_001128243.1:n.2979+8_2979+9delinsGC
NM_020708.4:c.2910+8_2910+9delinsGC	NP_065759.1:n.2910+8_2910+9delinsGC
XM_017027981.1:c.2979+8_2979+9delinsGC	XP_016883470.1:n.2979+8_2979+9delinsGC
NM_001134771.2:c.2979+8_2979+9delinsGC	NP_001128243.1:n.2979+8_2979+9delinsGC
NM_020708.5:c.2910+8_2910+9delinsGC MANE Select	NP_065759.1:n.2910+8_2910+9delinsGC