Canonical Allele Identifier: CA2653126542

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46056436-G-GGGGGAAGGGGAGACAGATCC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056439_46056458dup , CM000682.2:g.46056439_46056458dup	GRCh38
NC_000020.10:g.44685078_44685097dup , CM000682.1:g.44685078_44685097dup	GRCh37
NC_000020.9:g.44118485_44118504dup	NCBI36
NG_046341.1:g.39750_39769dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2985_3004dup MANE Select	ENSP00000243964.4:p.Glu1002GlyfsTer?
ENST00000243964.6:c.2985_3004dup	ENSP00000243964.3:p.Glu1002GlyfsTer?
ENST00000454036.6:c.3054_3073dup	ENSP00000387694.1:p.Glu1025GlyfsTer?
ENST00000616201.4:c.1298-2217_1298-2198dup	ENSP00000484585.1:n.1298-2217_1298-2198dup
ENST00000616202.4:c.613-2042_613-2023dup	ENSP00000478369.1:n.613-2042_613-2023dup
ENST00000616933.4:c.*2303_*2322dup	ENSP00000477569.1:n.*2303_*2322dup
ENST00000626937.2:c.510-3160_510-3141dup	ENSP00000485953.1:n.510-3160_510-3141dup
ENST00000628413.1:n.501_520dup
NM_001134771.1:c.3054_3073dup	NP_001128243.1:p.Glu1025GlyfsTer?
NM_020708.4:c.2985_3004dup	NP_065759.1:p.Glu1002GlyfsTer?
XM_017027981.1:c.3054_3073dup	XP_016883470.1:p.Glu1025GlyfsTer?
NM_001134771.2:c.3054_3073dup	NP_001128243.1:p.Glu1025GlyfsTer?
NM_020708.5:c.2985_3004dup MANE Select	NP_065759.1:p.Glu1002GlyfsTer?