Canonical Allele Identifier: CA2577414513

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46056456-CGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056458_46056460del , CM000682.2:g.46056458_46056460del	GRCh38
NC_000020.10:g.44685097_44685099del , CM000682.1:g.44685097_44685099del	GRCh37
NC_000020.9:g.44118504_44118506del	NCBI36
NG_046341.1:g.39769_39771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3004_3006del MANE Select	ENSP00000243964.4:p.Glu1002del
ENST00000243964.6:c.3004_3006del	ENSP00000243964.3:p.Glu1002del
ENST00000454036.6:c.3073_3075del	ENSP00000387694.1:p.Glu1025del
ENST00000616201.4:c.1298-2198_1298-2196del	ENSP00000484585.1:n.1298-2198_1298-2196del
ENST00000616202.4:c.613-2023_613-2021del	ENSP00000478369.1:n.613-2023_613-2021del
ENST00000616933.4:c.*2322_*2324del	ENSP00000477569.1:n.*2322_*2324del
ENST00000626937.2:c.510-3141_510-3139del	ENSP00000485953.1:n.510-3141_510-3139del
ENST00000628413.1:n.520_522del
NM_001134771.1:c.3073_3075del	NP_001128243.1:p.Glu1025del
NM_020708.4:c.3004_3006del	NP_065759.1:p.Glu1002del
XM_017027981.1:c.3073_3075del	XP_016883470.1:p.Glu1025del
NM_001134771.2:c.3073_3075del	NP_001128243.1:p.Glu1025del
NM_020708.5:c.3004_3006del MANE Select	NP_065759.1:p.Glu1002del