Canonical Allele Identifier: CA2366499451

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056097_46056108delinsGGCATGGGTGGT , CM000682.2:g.46056097_46056108delinsGGCATGGGTGGT	GRCh38
NC_000020.10:g.44684736_44684747delinsGGCATGGGTGGT , CM000682.1:g.44684736_44684747delinsGGCATGGGTGGT	GRCh37
NC_000020.9:g.44118143_44118154delinsGGCATGGGTGGT	NCBI36
NG_046341.1:g.39408_39419delinsGGCATGGGTGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000243964.7:c.2788-53_2788-42delinsGGCATGGGTGGT MANE Select	ENSP00000243964.4:n.2788-53_2788-42delins...
ENST00000243964.6:c.2788-53_2788-42delinsGGCATGGGTGGT	ENSP00000243964.3:n.2788-53_2788-42delins...
ENST00000454036.6:c.2857-53_2857-42delinsGGCATGGGTGGT	ENSP00000387694.1:n.2857-53_2857-42delins...
ENST00000616201.4:c.1298-2559_1298-2548delinsGGCATGGGTGGT	ENSP00000484585.1:n.1298-2559_1298-2548de...
ENST00000616202.4:c.613-2384_613-2373delinsGGCATGGGTGGT	ENSP00000478369.1:n.613-2384_613-2373deli...
ENST00000616933.4:c.*2106-53_*2106-42delinsGGCATGGGTGGT	ENSP00000477569.1:n.*2106-53_*2106-42deli...
ENST00000626937.2:c.510-3502_510-3491delinsGGCATGGGTGGT	ENSP00000485953.1:n.510-3502_510-3491deli...
ENST00000628413.1:n.251_262delinsGGCATGGGTGGT
NM_001134771.1:c.2857-53_2857-42delinsGGCATGGGTGGT	NP_001128243.1:n.2857-53_2857-42delinsGGC...
NM_020708.4:c.2788-53_2788-42delinsGGCATGGGTGGT	NP_065759.1:n.2788-53_2788-42delinsGGCATG...
XM_017027981.1:c.2857-53_2857-42delinsGGCATGGGTGGT	XP_016883470.1:n.2857-53_2857-42delinsGGC...
NM_001134771.2:c.2857-53_2857-42delinsGGCATGGGTGGT	NP_001128243.1:n.2857-53_2857-42delinsGGC...
NM_020708.5:c.2788-53_2788-42delinsGGCATGGGTGGT MANE Select	NP_065759.1:n.2788-53_2788-42delinsGGCATG...