Canonical Allele Identifier: CA2366499536

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056283_46056284delinsTG , CM000682.2:g.46056283_46056284delinsTG	GRCh38
NC_000020.10:g.44684922_44684923delinsTG , CM000682.1:g.44684922_44684923delinsTG	GRCh37
NC_000020.9:g.44118329_44118330delinsTG	NCBI36
NG_046341.1:g.39594_39595delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2910+11_2910+12delinsTG MANE Select	ENSP00000243964.4:n.2910+11_2910+12delinsTG
ENST00000243964.6:c.2910+11_2910+12delinsTG	ENSP00000243964.3:n.2910+11_2910+12delinsTG
ENST00000454036.6:c.2979+11_2979+12delinsTG	ENSP00000387694.1:n.2979+11_2979+12delinsTG
ENST00000616201.4:c.1298-2373_1298-2372delinsTG	ENSP00000484585.1:n.1298-2373_1298-2372delinsTG
ENST00000616202.4:c.613-2198_613-2197delinsTG	ENSP00000478369.1:n.613-2198_613-2197delinsTG
ENST00000616933.4:c.*2228+11_*2228+12delinsTG	ENSP00000477569.1:n.*2228+11_*2228+12delinsTG
ENST00000626937.2:c.510-3316_510-3315delinsTG	ENSP00000485953.1:n.510-3316_510-3315delinsTG
ENST00000628413.1:n.426+11_426+12delinsTG
NM_001134771.1:c.2979+11_2979+12delinsTG	NP_001128243.1:n.2979+11_2979+12delinsTG
NM_020708.4:c.2910+11_2910+12delinsTG	NP_065759.1:n.2910+11_2910+12delinsTG
XM_017027981.1:c.2979+11_2979+12delinsTG	XP_016883470.1:n.2979+11_2979+12delinsTG
NM_001134771.2:c.2979+11_2979+12delinsTG	NP_001128243.1:n.2979+11_2979+12delinsTG
NM_020708.5:c.2910+11_2910+12delinsTG MANE Select	NP_065759.1:n.2910+11_2910+12delinsTG