Canonical Allele Identifier: CA2832580946

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056579dup , CM000682.2:g.46056579dup	GRCh38
NC_000020.10:g.44685218dup , CM000682.1:g.44685218dup	GRCh37
NC_000020.9:g.44118625dup	NCBI36
NG_046341.1:g.39890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3110+15dup MANE Select	ENSP00000243964.4:n.3110+15dup
ENST00000243964.6:c.3110+15dup	ENSP00000243964.3:n.3110+15dup
ENST00000454036.6:c.3179+15dup	ENSP00000387694.1:n.3179+15dup
ENST00000616201.4:c.1298-2077dup	ENSP00000484585.1:n.1298-2077dup
ENST00000616202.4:c.613-1902dup	ENSP00000478369.1:n.613-1902dup
ENST00000616933.4:c.*2428+15dup	ENSP00000477569.1:n.*2428+15dup
ENST00000626937.2:c.510-3020dup	ENSP00000485953.1:n.510-3020dup
NM_001134771.1:c.3179+15dup	NP_001128243.1:n.3179+15dup
NM_020708.4:c.3110+15dup	NP_065759.1:n.3110+15dup
XM_017027981.1:c.3179+15dup	XP_016883470.1:n.3179+15dup
NM_001134771.2:c.3179+15dup	NP_001128243.1:n.3179+15dup
NM_020708.5:c.3110+15dup MANE Select	NP_065759.1:n.3110+15dup