Canonical Allele Identifier: CA2653126196

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46056008-T-TCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056009_46056011dup , CM000682.2:g.46056009_46056011dup	GRCh38
NC_000020.10:g.44684648_44684650dup , CM000682.1:g.44684648_44684650dup	GRCh37
NC_000020.9:g.44118055_44118057dup	NCBI36
NG_046341.1:g.39320_39322dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-141_2788-139dup MANE Select	ENSP00000243964.4:n.2788-141_2788-139dup
ENST00000243964.6:c.2788-141_2788-139dup	ENSP00000243964.3:n.2788-141_2788-139dup
ENST00000454036.6:c.2857-141_2857-139dup	ENSP00000387694.1:n.2857-141_2857-139dup
ENST00000616201.4:c.1298-2647_1298-2645dup	ENSP00000484585.1:n.1298-2647_1298-2645dup
ENST00000616202.4:c.613-2472_613-2470dup	ENSP00000478369.1:n.613-2472_613-2470dup
ENST00000616933.4:c.*2106-141_*2106-139dup	ENSP00000477569.1:n.*2106-141_*2106-139dup
ENST00000626937.2:c.510-3590_510-3588dup	ENSP00000485953.1:n.510-3590_510-3588dup
ENST00000628413.1:n.163_165dup
NM_001134771.1:c.2857-141_2857-139dup	NP_001128243.1:n.2857-141_2857-139dup
NM_020708.4:c.2788-141_2788-139dup	NP_065759.1:n.2788-141_2788-139dup
XM_017027981.1:c.2857-141_2857-139dup	XP_016883470.1:n.2857-141_2857-139dup
NM_001134771.2:c.2857-141_2857-139dup	NP_001128243.1:n.2857-141_2857-139dup
NM_020708.5:c.2788-141_2788-139dup MANE Select	NP_065759.1:n.2788-141_2788-139dup