Canonical Allele Identifier: CA2542320973

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056278_46056279del , CM000682.2:g.46056278_46056279del	GRCh38
NC_000020.10:g.44684917_44684918del , CM000682.1:g.44684917_44684918del	GRCh37
NC_000020.9:g.44118324_44118325del	NCBI36
NG_046341.1:g.39589_39590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2910+6_2910+7del MANE Select	ENSP00000243964.4:n.2910+6_2910+7del
ENST00000243964.6:c.2910+6_2910+7del	ENSP00000243964.3:n.2910+6_2910+7del
ENST00000454036.6:c.2979+6_2979+7del	ENSP00000387694.1:n.2979+6_2979+7del
ENST00000616201.4:c.1298-2378_1298-2377del	ENSP00000484585.1:n.1298-2378_1298-2377del
ENST00000616202.4:c.613-2203_613-2202del	ENSP00000478369.1:n.613-2203_613-2202del
ENST00000616933.4:c.*2228+6_*2228+7del	ENSP00000477569.1:n.*2228+6_*2228+7del
ENST00000626937.2:c.510-3321_510-3320del	ENSP00000485953.1:n.510-3321_510-3320del
ENST00000628413.1:n.426+6_426+7del
NM_001134771.1:c.2979+6_2979+7del	NP_001128243.1:n.2979+6_2979+7del
NM_020708.4:c.2910+6_2910+7del	NP_065759.1:n.2910+6_2910+7del
XM_017027981.1:c.2979+6_2979+7del	XP_016883470.1:n.2979+6_2979+7del
NM_001134771.2:c.2979+6_2979+7del	NP_001128243.1:n.2979+6_2979+7del
NM_020708.5:c.2910+6_2910+7del MANE Select	NP_065759.1:n.2910+6_2910+7del