Canonical Allele Identifier: CA2653126139

Gene: SLC12A5

Linked Data

• gnomAD v4: 20-46055964-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46055969_46055971del , CM000682.2:g.46055969_46055971del	GRCh38
NC_000020.10:g.44684608_44684610del , CM000682.1:g.44684608_44684610del	GRCh37
NC_000020.9:g.44118015_44118017del	NCBI36
NG_046341.1:g.39280_39282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-181_2788-179del MANE Select	ENSP00000243964.4:n.2788-181_2788-179del
ENST00000243964.6:c.2788-181_2788-179del	ENSP00000243964.3:n.2788-181_2788-179del
ENST00000454036.6:c.2857-181_2857-179del	ENSP00000387694.1:n.2857-181_2857-179del
ENST00000616201.4:c.1298-2687_1298-2685del	ENSP00000484585.1:n.1298-2687_1298-2685del
ENST00000616202.4:c.613-2512_613-2510del	ENSP00000478369.1:n.613-2512_613-2510del
ENST00000616933.4:c.*2106-181_*2106-179del	ENSP00000477569.1:n.*2106-181_*2106-179del
ENST00000626937.2:c.510-3630_510-3628del	ENSP00000485953.1:n.510-3630_510-3628del
ENST00000628413.1:n.123_125del
NM_001134771.1:c.2857-181_2857-179del	NP_001128243.1:n.2857-181_2857-179del
NM_020708.4:c.2788-181_2788-179del	NP_065759.1:n.2788-181_2788-179del
XM_017027981.1:c.2857-181_2857-179del	XP_016883470.1:n.2857-181_2857-179del
NM_001134771.2:c.2857-181_2857-179del	NP_001128243.1:n.2857-181_2857-179del
NM_020708.5:c.2788-181_2788-179del MANE Select	NP_065759.1:n.2788-181_2788-179del