Canonical Allele Identifier: CA2839685179

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056181dup , CM000682.2:g.46056181dup	GRCh38
NC_000020.10:g.44684820dup , CM000682.1:g.44684820dup	GRCh37
NC_000020.9:g.44118227dup	NCBI36
NG_046341.1:g.39492dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2819dup MANE Select	ENSP00000243964.4:p.Ile941AsnfsTer22
ENST00000243964.6:c.2819dup	ENSP00000243964.3:p.Ile941AsnfsTer22
ENST00000454036.6:c.2888dup	ENSP00000387694.1:p.Ile964AsnfsTer22
ENST00000616201.4:c.1298-2475dup	ENSP00000484585.1:n.1298-2475dup
ENST00000616202.4:c.613-2300dup	ENSP00000478369.1:n.613-2300dup
ENST00000616933.4:c.*2137dup	ENSP00000477569.1:n.*2137dup
ENST00000626937.2:c.510-3418dup	ENSP00000485953.1:n.510-3418dup
ENST00000628413.1:n.335dup
NM_001134771.1:c.2888dup	NP_001128243.1:p.Ile964AsnfsTer22
NM_020708.4:c.2819dup	NP_065759.1:p.Ile941AsnfsTer22
XM_017027981.1:c.2888dup	XP_016883470.1:p.Ile964AsnfsTer22
NM_001134771.2:c.2888dup	NP_001128243.1:p.Ile964AsnfsTer22
NM_020708.5:c.2819dup MANE Select	NP_065759.1:p.Ile941AsnfsTer22