Canonical Allele Identifier: CA920222222

Gene: SLC12A5

Linked Data

• dbSNP Id: rs1600606892

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056286del , CM000682.2:g.46056286del	GRCh38
NC_000020.10:g.44684925del , CM000682.1:g.44684925del	GRCh37
NC_000020.9:g.44118332del	NCBI36
NG_046341.1:g.39597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2910+14del MANE Select	ENSP00000243964.4:n.2910+14del
ENST00000243964.6:c.2910+14del	ENSP00000243964.3:n.2910+14del
ENST00000454036.6:c.2979+14del	ENSP00000387694.1:n.2979+14del
ENST00000616201.4:c.1298-2370del	ENSP00000484585.1:n.1298-2370del
ENST00000616202.4:c.613-2195del	ENSP00000478369.1:n.613-2195del
ENST00000616933.4:c.*2228+14del	ENSP00000477569.1:n.*2228+14del
ENST00000626937.2:c.510-3313del	ENSP00000485953.1:n.510-3313del
ENST00000628413.1:n.426+14del
NM_001134771.1:c.2979+14del	NP_001128243.1:n.2979+14del
NM_020708.4:c.2910+14del	NP_065759.1:n.2910+14del
XM_017027981.1:c.2979+14del	XP_016883470.1:n.2979+14del
NM_001134771.2:c.2979+14del	NP_001128243.1:n.2979+14del
NM_020708.5:c.2910+14del MANE Select	NP_065759.1:n.2910+14del