Canonical Allele Identifier: CA2653126059

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46055907-GAGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46055908_46055911del , CM000682.2:g.46055908_46055911del	GRCh38
NC_000020.10:g.44684547_44684550del , CM000682.1:g.44684547_44684550del	GRCh37
NC_000020.9:g.44117954_44117957del	NCBI36
NG_046341.1:g.39219_39222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-242_2788-239del MANE Select	ENSP00000243964.4:n.2788-242_2788-239del
ENST00000243964.6:c.2788-242_2788-239del	ENSP00000243964.3:n.2788-242_2788-239del
ENST00000454036.6:c.2857-242_2857-239del	ENSP00000387694.1:n.2857-242_2857-239del
ENST00000616201.4:c.1298-2748_1298-2745del	ENSP00000484585.1:n.1298-2748_1298-2745del
ENST00000616202.4:c.613-2573_613-2570del	ENSP00000478369.1:n.613-2573_613-2570del
ENST00000616933.4:c.*2106-242_*2106-239del	ENSP00000477569.1:n.*2106-242_*2106-239del
ENST00000626937.2:c.510-3691_510-3688del	ENSP00000485953.1:n.510-3691_510-3688del
ENST00000628413.1:n.62_65del
NM_001134771.1:c.2857-242_2857-239del	NP_001128243.1:n.2857-242_2857-239del
NM_020708.4:c.2788-242_2788-239del	NP_065759.1:n.2788-242_2788-239del
XM_017027981.1:c.2857-242_2857-239del	XP_016883470.1:n.2857-242_2857-239del
NM_001134771.2:c.2857-242_2857-239del	NP_001128243.1:n.2857-242_2857-239del
NM_020708.5:c.2788-242_2788-239del MANE Select	NP_065759.1:n.2788-242_2788-239del