Canonical Allele Identifier: CA2509961846

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056285_46056286insC , CM000682.2:g.46056285_46056286insC	GRCh38
NC_000020.10:g.44684924_44684925insC , CM000682.1:g.44684924_44684925insC	GRCh37
NC_000020.9:g.44118331_44118332insC	NCBI36
NG_046341.1:g.39596_39597insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2910+13_2910+14insC MANE Select	ENSP00000243964.4:n.2910+13_2910+14insC
ENST00000243964.6:c.2910+13_2910+14insC	ENSP00000243964.3:n.2910+13_2910+14insC
ENST00000454036.6:c.2979+13_2979+14insC	ENSP00000387694.1:n.2979+13_2979+14insC
ENST00000616201.4:c.1298-2371_1298-2370insC	ENSP00000484585.1:n.1298-2371_1298-2370insC
ENST00000616202.4:c.613-2196_613-2195insC	ENSP00000478369.1:n.613-2196_613-2195insC
ENST00000616933.4:c.*2228+13_*2228+14insC	ENSP00000477569.1:n.*2228+13_*2228+14insC
ENST00000626937.2:c.510-3314_510-3313insC	ENSP00000485953.1:n.510-3314_510-3313insC
ENST00000628413.1:n.426+13_426+14insC
NM_001134771.1:c.2979+13_2979+14insC	NP_001128243.1:n.2979+13_2979+14insC
NM_020708.4:c.2910+13_2910+14insC	NP_065759.1:n.2910+13_2910+14insC
XM_017027981.1:c.2979+13_2979+14insC	XP_016883470.1:n.2979+13_2979+14insC
NM_001134771.2:c.2979+13_2979+14insC	NP_001128243.1:n.2979+13_2979+14insC
NM_020708.5:c.2910+13_2910+14insC MANE Select	NP_065759.1:n.2910+13_2910+14insC