Canonical Allele Identifier: CA10641569

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34230740_34230743del , CM000677.2:g.34230740_34230743del	GRCh38
NC_000015.9:g.34522941_34522944del , CM000677.1:g.34522941_34522944del	GRCh37
NC_000015.8:g.32310233_32310236del	NCBI36
NG_007951.1:g.112327_112330del , LRG_270:g.112327_112330del
NG_054746.1:g.10744_10747del

Transcript Alleles

HGVS	Amino-acid Change
NM_001365088.1:c.*3143_*3146del MANE Select	NP_001352017.1:n.*3143_*3146del
ENST00000354181.8:c.*3143_*3146del MANE Select	ENSP00000346112.3:n.*3143_*3146del
NM_001042494.1:c.*3143_*3146del	NP_001035959.1:n.*3143_*3146del
NM_001042494.2:c.*3143_*3146del	NP_001035959.1:n.*3143_*3146del
NM_001042495.1:c.*3143_*3146del	NP_001035960.1:n.*3143_*3146del
NM_001042495.2:c.*3143_*3146del	NP_001035960.1:n.*3143_*3146del
NM_001042496.1:c.*3143_*3146del	NP_001035961.1:n.*3143_*3146del
NM_001042496.2:c.*3143_*3146del	NP_001035961.1:n.*3143_*3146del
NM_001042497.1:c.*3143_*3146del	NP_001035962.1:n.*3143_*3146del
NM_001042497.2:c.*3143_*3146del	NP_001035962.1:n.*3143_*3146del
NM_005135.2:c.*3143_*3146del , LRG_270t1:c.*3143_*3146del	NP_005126.1:n.*3143_*3146del
NM_133647.1:c.*3143_*3146del , LRG_270t2:c.*3143_*3146del	NP_598408.1:n.*3143_*3146del
NM_133647.2:c.*3143_*3146del	NP_598408.1:n.*3143_*3146del
ENST00000290209.9:c.*3143_*3146del	ENSP00000290209.5:n.*3143_*3146del
ENST00000676379.1:c.*1762_*1765del	ENSP00000502539.1:n.*1762_*1765del
XM_006720793.4:c.*3143_*3146del	XP_006720856.1:n.*3143_*3146del
XM_011522267.1:c.*3143_*3146del	XP_011520569.1:n.*3143_*3146del
XM_011522268.1:c.*3143_*3146del	XP_011520570.1:n.*3143_*3146del
XR_429476.2:n.5818_5821del