Canonical Allele Identifier: CA2653126696

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46056506-AATAAGGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056507_46056515del , CM000682.2:g.46056507_46056515del	GRCh38
NC_000020.10:g.44685146_44685154del , CM000682.1:g.44685146_44685154del	GRCh37
NC_000020.9:g.44118553_44118561del	NCBI36
NG_046341.1:g.39818_39826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3053_3061del MANE Select	ENSP00000243964.4:p.Asn1018_Pro1021delinsThr
ENST00000243964.6:c.3053_3061del	ENSP00000243964.3:p.Asn1018_Pro1021delinsThr
ENST00000454036.6:c.3122_3130del	ENSP00000387694.1:p.Asn1041_Pro1044delinsThr
ENST00000616201.4:c.1298-2149_1298-2141del	ENSP00000484585.1:n.1298-2149_1298-2141del
ENST00000616202.4:c.613-1974_613-1966del	ENSP00000478369.1:n.613-1974_613-1966del
ENST00000616933.4:c.*2371_*2379del	ENSP00000477569.1:n.*2371_*2379del
ENST00000626937.2:c.510-3092_510-3084del	ENSP00000485953.1:n.510-3092_510-3084del
NM_001134771.1:c.3122_3130del	NP_001128243.1:p.Asn1041_Pro1044delinsThr
NM_020708.4:c.3053_3061del	NP_065759.1:p.Asn1018_Pro1021delinsThr
XM_017027981.1:c.3122_3130del	XP_016883470.1:p.Asn1041_Pro1044delinsThr
NM_001134771.2:c.3122_3130del	NP_001128243.1:p.Asn1041_Pro1044delinsThr
NM_020708.5:c.3053_3061del MANE Select	NP_065759.1:p.Asn1018_Pro1021delinsThr