Canonical Allele Identifier: CA2653126879

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46056583-A-AGGGCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056593_46056599dup , CM000682.2:g.46056593_46056599dup	GRCh38
NC_000020.10:g.44685232_44685238dup , CM000682.1:g.44685232_44685238dup	GRCh37
NC_000020.9:g.44118639_44118645dup	NCBI36
NG_046341.1:g.39904_39910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3110+29_3110+35dup MANE Select	ENSP00000243964.4:n.3110+29_3110+35dup
ENST00000243964.6:c.3110+29_3110+35dup	ENSP00000243964.3:n.3110+29_3110+35dup
ENST00000454036.6:c.3179+29_3179+35dup	ENSP00000387694.1:n.3179+29_3179+35dup
ENST00000616201.4:c.1298-2063_1298-2057dup	ENSP00000484585.1:n.1298-2063_1298-2057dup
ENST00000616202.4:c.613-1888_613-1882dup	ENSP00000478369.1:n.613-1888_613-1882dup
ENST00000616933.4:c.*2428+29_*2428+35dup	ENSP00000477569.1:n.*2428+29_*2428+35dup
ENST00000626937.2:c.510-3006_510-3000dup	ENSP00000485953.1:n.510-3006_510-3000dup
NM_001134771.1:c.3179+29_3179+35dup	NP_001128243.1:n.3179+29_3179+35dup
NM_020708.4:c.3110+29_3110+35dup	NP_065759.1:n.3110+29_3110+35dup
XM_017027981.1:c.3179+29_3179+35dup	XP_016883470.1:n.3179+29_3179+35dup
NM_001134771.2:c.3179+29_3179+35dup	NP_001128243.1:n.3179+29_3179+35dup
NM_020708.5:c.3110+29_3110+35dup MANE Select	NP_065759.1:n.3110+29_3110+35dup