Canonical Allele Identifier: CA2509961846
Gene: SLC12A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056285_46056286insC , CM000682.2:g.46056285_46056286insC GRCh38
NC_000020.10:g.44684924_44684925insC , CM000682.1:g.44684924_44684925insC GRCh37
NC_000020.9:g.44118331_44118332insC NCBI36
NG_046341.1:g.39596_39597insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000243964.7:c.2910+13_2910+14insC MANE Select ENSP00000243964.4:n.2910+13_2910+14insC
ENST00000243964.6:c.2910+13_2910+14insC ENSP00000243964.3:n.2910+13_2910+14insC
ENST00000454036.6:c.2979+13_2979+14insC ENSP00000387694.1:n.2979+13_2979+14insC
ENST00000616201.4:c.1298-2371_1298-2370insC ENSP00000484585.1:n.1298-2371_1298-2370insC
ENST00000616202.4:c.613-2196_613-2195insC ENSP00000478369.1:n.613-2196_613-2195insC
ENST00000616933.4:c.*2228+13_*2228+14insC ENSP00000477569.1:n.*2228+13_*2228+14insC
ENST00000626937.2:c.510-3314_510-3313insC ENSP00000485953.1:n.510-3314_510-3313insC
ENST00000628413.1:n.426+13_426+14insC
NM_001134771.1:c.2979+13_2979+14insC NP_001128243.1:n.2979+13_2979+14insC
NM_020708.4:c.2910+13_2910+14insC NP_065759.1:n.2910+13_2910+14insC
XM_017027981.1:c.2979+13_2979+14insC XP_016883470.1:n.2979+13_2979+14insC
NM_001134771.2:c.2979+13_2979+14insC NP_001128243.1:n.2979+13_2979+14insC
NM_020708.5:c.2910+13_2910+14insC MANE Select NP_065759.1:n.2910+13_2910+14insC