Canonical Allele Identifier: CA2366499344

Gene: SLC12A5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46055865_46055866delinsAC , CM000682.2:g.46055865_46055866delinsAC	GRCh38
NC_000020.10:g.44684504_44684505delinsAC , CM000682.1:g.44684504_44684505delinsAC	GRCh37
NC_000020.9:g.44117911_44117912delinsAC	NCBI36
NG_046341.1:g.39176_39177delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2788-285_2788-284delinsAC MANE Select	ENSP00000243964.4:n.2788-285_2788-284delinsAC
ENST00000243964.6:c.2788-285_2788-284delinsAC	ENSP00000243964.3:n.2788-285_2788-284delinsAC
ENST00000454036.6:c.2857-285_2857-284delinsAC	ENSP00000387694.1:n.2857-285_2857-284delinsAC
ENST00000616201.4:c.1298-2791_1298-2790delinsAC	ENSP00000484585.1:n.1298-2791_1298-2790delinsAC
ENST00000616202.4:c.613-2616_613-2615delinsAC	ENSP00000478369.1:n.613-2616_613-2615delinsAC
ENST00000616933.4:c.*2106-285_*2106-284delinsAC	ENSP00000477569.1:n.*2106-285_*2106-284delinsAC
ENST00000626937.2:c.510-3734_510-3733delinsAC	ENSP00000485953.1:n.510-3734_510-3733delinsAC
ENST00000628413.1:n.19_20delinsAC
NM_001134771.1:c.2857-285_2857-284delinsAC	NP_001128243.1:n.2857-285_2857-284delinsAC
NM_020708.4:c.2788-285_2788-284delinsAC	NP_065759.1:n.2788-285_2788-284delinsAC
XM_017027981.1:c.2857-285_2857-284delinsAC	XP_016883470.1:n.2857-285_2857-284delinsAC
NM_001134771.2:c.2857-285_2857-284delinsAC	NP_001128243.1:n.2857-285_2857-284delinsAC
NM_020708.5:c.2788-285_2788-284delinsAC MANE Select	NP_065759.1:n.2788-285_2788-284delinsAC