Canonical Allele Identifier: CA2366499442

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056077_46056079delinsCTG , CM000682.2:g.46056077_46056079delinsCTG	GRCh38
NC_000020.10:g.44684716_44684718delinsCTG , CM000682.1:g.44684716_44684718delinsCTG	GRCh37
NC_000020.9:g.44118123_44118125delinsCTG	NCBI36
NG_046341.1:g.39388_39390delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-73_2788-71delinsCTG MANE Select	ENSP00000243964.4:n.2788-73_2788-71delinsCTG
ENST00000243964.6:c.2788-73_2788-71delinsCTG	ENSP00000243964.3:n.2788-73_2788-71delinsCTG
ENST00000454036.6:c.2857-73_2857-71delinsCTG	ENSP00000387694.1:n.2857-73_2857-71delinsCTG
ENST00000616201.4:c.1298-2579_1298-2577delinsCTG	ENSP00000484585.1:n.1298-2579_1298-2577delinsCTG
ENST00000616202.4:c.613-2404_613-2402delinsCTG	ENSP00000478369.1:n.613-2404_613-2402delinsCTG
ENST00000616933.4:c.*2106-73_*2106-71delinsCTG	ENSP00000477569.1:n.*2106-73_*2106-71delinsCTG
ENST00000626937.2:c.510-3522_510-3520delinsCTG	ENSP00000485953.1:n.510-3522_510-3520delinsCTG
ENST00000628413.1:n.231_233delinsCTG
NM_001134771.1:c.2857-73_2857-71delinsCTG	NP_001128243.1:n.2857-73_2857-71delinsCTG
NM_020708.4:c.2788-73_2788-71delinsCTG	NP_065759.1:n.2788-73_2788-71delinsCTG
XM_017027981.1:c.2857-73_2857-71delinsCTG	XP_016883470.1:n.2857-73_2857-71delinsCTG
NM_001134771.2:c.2857-73_2857-71delinsCTG	NP_001128243.1:n.2857-73_2857-71delinsCTG
NM_020708.5:c.2788-73_2788-71delinsCTG MANE Select	NP_065759.1:n.2788-73_2788-71delinsCTG