Canonical Allele Identifier: CA2366499555

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056330_46056331delinsAG , CM000682.2:g.46056330_46056331delinsAG	GRCh38
NC_000020.10:g.44684969_44684970delinsAG , CM000682.1:g.44684969_44684970delinsAG	GRCh37
NC_000020.9:g.44118376_44118377delinsAG	NCBI36
NG_046341.1:g.39641_39642delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2911-35_2911-34delinsAG MANE Select	ENSP00000243964.4:n.2911-35_2911-34delinsAG
ENST00000243964.6:c.2911-35_2911-34delinsAG	ENSP00000243964.3:n.2911-35_2911-34delinsAG
ENST00000454036.6:c.2980-35_2980-34delinsAG	ENSP00000387694.1:n.2980-35_2980-34delinsAG
ENST00000616201.4:c.1298-2326_1298-2325delinsAG	ENSP00000484585.1:n.1298-2326_1298-2325delinsAG
ENST00000616202.4:c.613-2151_613-2150delinsAG	ENSP00000478369.1:n.613-2151_613-2150delinsAG
ENST00000616933.4:c.*2229-35_*2229-34delinsAG	ENSP00000477569.1:n.*2229-35_*2229-34delinsAG
ENST00000626937.2:c.510-3269_510-3268delinsAG	ENSP00000485953.1:n.510-3269_510-3268delinsAG
ENST00000628413.1:n.427-35_427-34delinsAG
NM_001134771.1:c.2980-35_2980-34delinsAG	NP_001128243.1:n.2980-35_2980-34delinsAG
NM_020708.4:c.2911-35_2911-34delinsAG	NP_065759.1:n.2911-35_2911-34delinsAG
XM_017027981.1:c.2980-35_2980-34delinsAG	XP_016883470.1:n.2980-35_2980-34delinsAG
NM_001134771.2:c.2980-35_2980-34delinsAG	NP_001128243.1:n.2980-35_2980-34delinsAG
NM_020708.5:c.2911-35_2911-34delinsAG MANE Select	NP_065759.1:n.2911-35_2911-34delinsAG