Canonical Allele Identifier: CA2999973835
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56904385_56904386del , CM000678.2:g.56904385_56904386del GRCh38
NC_000016.9:g.56938297_56938298del , CM000678.1:g.56938297_56938298del GRCh37
NC_000016.8:g.55495798_55495799del NCBI36
NG_009386.1:g.44179_44180del
NG_009386.2:g.44179_44180del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2857-10_2857-9del MANE Select ENSP00000456149.2:n.2857-10_2857-9del
ENST00000262502.5:c.2854-10_2854-9del ENSP00000262502.5:n.2854-10_2854-9del
ENST00000438926.6:c.2884-10_2884-9del ENSP00000402152.2:n.2884-10_2884-9del
ENST00000563236.5:c.2857-10_2857-9del ENSP00000456149.1:n.2857-10_2857-9del
ENST00000566786.5:c.2881-10_2881-9del ENSP00000457552.1:n.2881-10_2881-9del
ENST00000569002.1:n.288-10_288-9del
NM_000339.2:c.2884-10_2884-9del NP_000330.2:n.2884-10_2884-9del
NM_001126107.1:c.2881-10_2881-9del NP_001119579.1:n.2881-10_2881-9del
NM_001126108.1:c.2857-10_2857-9del NP_001119580.1:n.2857-10_2857-9del
XM_005256119.1:c.2854-10_2854-9del XP_005256176.1:n.2854-10_2854-9del
XM_005256119.2:c.2854-10_2854-9del XP_005256176.1:n.2854-10_2854-9del
NM_000339.3:c.2884-10_2884-9del NP_000330.3:n.2884-10_2884-9del
NM_001126107.2:c.2881-10_2881-9del NP_001119579.2:n.2881-10_2881-9del
NM_001126108.2:c.2857-10_2857-9del MANE Select NP_001119580.2:n.2857-10_2857-9del