Canonical Allele Identifier: CA2653126205

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46056019-AGCAATATTTTAACAACTGGTAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056020_46056041del , CM000682.2:g.46056020_46056041del	GRCh38
NC_000020.10:g.44684659_44684680del , CM000682.1:g.44684659_44684680del	GRCh37
NC_000020.9:g.44118066_44118087del	NCBI36
NG_046341.1:g.39331_39352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-130_2788-109del MANE Select	ENSP00000243964.4:n.2788-130_2788-109del
ENST00000243964.6:c.2788-130_2788-109del	ENSP00000243964.3:n.2788-130_2788-109del
ENST00000454036.6:c.2857-130_2857-109del	ENSP00000387694.1:n.2857-130_2857-109del
ENST00000616201.4:c.1298-2636_1298-2615del	ENSP00000484585.1:n.1298-2636_1298-2615del
ENST00000616202.4:c.613-2461_613-2440del	ENSP00000478369.1:n.613-2461_613-2440del
ENST00000616933.4:c.*2106-130_*2106-109del	ENSP00000477569.1:n.*2106-130_*2106-109del
ENST00000626937.2:c.510-3579_510-3558del	ENSP00000485953.1:n.510-3579_510-3558del
ENST00000628413.1:n.174_195del
NM_001134771.1:c.2857-130_2857-109del	NP_001128243.1:n.2857-130_2857-109del
NM_020708.4:c.2788-130_2788-109del	NP_065759.1:n.2788-130_2788-109del
XM_017027981.1:c.2857-130_2857-109del	XP_016883470.1:n.2857-130_2857-109del
NM_001134771.2:c.2857-130_2857-109del	NP_001128243.1:n.2857-130_2857-109del
NM_020708.5:c.2788-130_2788-109del MANE Select	NP_065759.1:n.2788-130_2788-109del