Canonical Allele Identifier: CA2366499465

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056126_46056127delinsGC , CM000682.2:g.46056126_46056127delinsGC	GRCh38
NC_000020.10:g.44684765_44684766delinsGC , CM000682.1:g.44684765_44684766delinsGC	GRCh37
NC_000020.9:g.44118172_44118173delinsGC	NCBI36
NG_046341.1:g.39437_39438delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-24_2788-23delinsGC MANE Select	ENSP00000243964.4:n.2788-24_2788-23delinsGC
ENST00000243964.6:c.2788-24_2788-23delinsGC	ENSP00000243964.3:n.2788-24_2788-23delinsGC
ENST00000454036.6:c.2857-24_2857-23delinsGC	ENSP00000387694.1:n.2857-24_2857-23delinsGC
ENST00000616201.4:c.1298-2530_1298-2529delinsGC	ENSP00000484585.1:n.1298-2530_1298-2529delinsGC
ENST00000616202.4:c.613-2355_613-2354delinsGC	ENSP00000478369.1:n.613-2355_613-2354delinsGC
ENST00000616933.4:c.*2106-24_*2106-23delinsGC	ENSP00000477569.1:n.*2106-24_*2106-23delinsGC
ENST00000626937.2:c.510-3473_510-3472delinsGC	ENSP00000485953.1:n.510-3473_510-3472delinsGC
ENST00000628413.1:n.280_281delinsGC
NM_001134771.1:c.2857-24_2857-23delinsGC	NP_001128243.1:n.2857-24_2857-23delinsGC
NM_020708.4:c.2788-24_2788-23delinsGC	NP_065759.1:n.2788-24_2788-23delinsGC
XM_017027981.1:c.2857-24_2857-23delinsGC	XP_016883470.1:n.2857-24_2857-23delinsGC
NM_001134771.2:c.2857-24_2857-23delinsGC	NP_001128243.1:n.2857-24_2857-23delinsGC
NM_020708.5:c.2788-24_2788-23delinsGC MANE Select	NP_065759.1:n.2788-24_2788-23delinsGC