Canonical Allele Identifier: CA2653126071

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46055912-TTGCTGTGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46055913_46055921del , CM000682.2:g.46055913_46055921del	GRCh38
NC_000020.10:g.44684552_44684560del , CM000682.1:g.44684552_44684560del	GRCh37
NC_000020.9:g.44117959_44117967del	NCBI36
NG_046341.1:g.39224_39232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-237_2788-229del MANE Select	ENSP00000243964.4:n.2788-237_2788-229del
ENST00000243964.6:c.2788-237_2788-229del	ENSP00000243964.3:n.2788-237_2788-229del
ENST00000454036.6:c.2857-237_2857-229del	ENSP00000387694.1:n.2857-237_2857-229del
ENST00000616201.4:c.1298-2743_1298-2735del	ENSP00000484585.1:n.1298-2743_1298-2735del
ENST00000616202.4:c.613-2568_613-2560del	ENSP00000478369.1:n.613-2568_613-2560del
ENST00000616933.4:c.*2106-237_*2106-229del	ENSP00000477569.1:n.*2106-237_*2106-229del
ENST00000626937.2:c.510-3686_510-3678del	ENSP00000485953.1:n.510-3686_510-3678del
ENST00000628413.1:n.67_75del
NM_001134771.1:c.2857-237_2857-229del	NP_001128243.1:n.2857-237_2857-229del
NM_020708.4:c.2788-237_2788-229del	NP_065759.1:n.2788-237_2788-229del
XM_017027981.1:c.2857-237_2857-229del	XP_016883470.1:n.2857-237_2857-229del
NM_001134771.2:c.2857-237_2857-229del	NP_001128243.1:n.2857-237_2857-229del
NM_020708.5:c.2788-237_2788-229del MANE Select	NP_065759.1:n.2788-237_2788-229del