Canonical Allele Identifier: CA2653126210

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46056025-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056028_46056029dup , CM000682.2:g.46056028_46056029dup	GRCh38
NC_000020.10:g.44684667_44684668dup , CM000682.1:g.44684667_44684668dup	GRCh37
NC_000020.9:g.44118074_44118075dup	NCBI36
NG_046341.1:g.39339_39340dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-122_2788-121dup MANE Select	ENSP00000243964.4:n.2788-122_2788-121dup
ENST00000243964.6:c.2788-122_2788-121dup	ENSP00000243964.3:n.2788-122_2788-121dup
ENST00000454036.6:c.2857-122_2857-121dup	ENSP00000387694.1:n.2857-122_2857-121dup
ENST00000616201.4:c.1298-2628_1298-2627dup	ENSP00000484585.1:n.1298-2628_1298-2627dup
ENST00000616202.4:c.613-2453_613-2452dup	ENSP00000478369.1:n.613-2453_613-2452dup
ENST00000616933.4:c.*2106-122_*2106-121dup	ENSP00000477569.1:n.*2106-122_*2106-121dup
ENST00000626937.2:c.510-3571_510-3570dup	ENSP00000485953.1:n.510-3571_510-3570dup
ENST00000628413.1:n.182_183dup
NM_001134771.1:c.2857-122_2857-121dup	NP_001128243.1:n.2857-122_2857-121dup
NM_020708.4:c.2788-122_2788-121dup	NP_065759.1:n.2788-122_2788-121dup
XM_017027981.1:c.2857-122_2857-121dup	XP_016883470.1:n.2857-122_2857-121dup
NM_001134771.2:c.2857-122_2857-121dup	NP_001128243.1:n.2857-122_2857-121dup
NM_020708.5:c.2788-122_2788-121dup MANE Select	NP_065759.1:n.2788-122_2788-121dup