Canonical Allele Identifier: CA2366499452

Gene: SLC12A5

Linked Data

• dbSNP Id: rs2084688708

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056099_46056109del , CM000682.2:g.46056099_46056109del	GRCh38
NC_000020.10:g.44684738_44684748del , CM000682.1:g.44684738_44684748del	GRCh37
NC_000020.9:g.44118145_44118155del	NCBI36
NG_046341.1:g.39410_39420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-51_2788-41del MANE Select	ENSP00000243964.4:n.2788-51_2788-41del
ENST00000243964.6:c.2788-51_2788-41del	ENSP00000243964.3:n.2788-51_2788-41del
ENST00000454036.6:c.2857-51_2857-41del	ENSP00000387694.1:n.2857-51_2857-41del
ENST00000616201.4:c.1298-2557_1298-2547del	ENSP00000484585.1:n.1298-2557_1298-2547del
ENST00000616202.4:c.613-2382_613-2372del	ENSP00000478369.1:n.613-2382_613-2372del
ENST00000616933.4:c.*2106-51_*2106-41del	ENSP00000477569.1:n.*2106-51_*2106-41del
ENST00000626937.2:c.510-3500_510-3490del	ENSP00000485953.1:n.510-3500_510-3490del
ENST00000628413.1:n.253_263del
NM_001134771.1:c.2857-51_2857-41del	NP_001128243.1:n.2857-51_2857-41del
NM_020708.4:c.2788-51_2788-41del	NP_065759.1:n.2788-51_2788-41del
XM_017027981.1:c.2857-51_2857-41del	XP_016883470.1:n.2857-51_2857-41del
NM_001134771.2:c.2857-51_2857-41del	NP_001128243.1:n.2857-51_2857-41del
NM_020708.5:c.2788-51_2788-41del MANE Select	NP_065759.1:n.2788-51_2788-41del