Canonical Allele Identifier: CA1581197782

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186768_128186773delinsCAGGAA , CM000667.2:g.128186768_128186773delinsCAGGAA	GRCh38
NC_000005.9:g.127522460_127522465delinsCAGGAA , CM000667.1:g.127522460_127522465delinsCAGGAA	GRCh37
NC_000005.8:g.127550359_127550364delinsCAGGAA	NCBI36
NG_042286.1:g.107978_107983delinsCAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*137_*142delinsCAGGAA MANE Select	ENSP00000262461.2:n.*137_*142delinsCAGGAA
ENST00000262461.6:c.*137_*142delinsCAGGAA	ENSP00000262461.2:n.*137_*142delinsCAGGAA
ENST00000343225.4:c.*137_*142delinsCAGGAA	ENSP00000340878.4:n.*137_*142delinsCAGGAA
ENST00000509205.5:c.*389_*394delinsCAGGAA	ENSP00000427109.1:n.*389_*394delinsCAGGAA
NM_001046.2:c.*137_*142delinsCAGGAA	NP_001037.1:n.*137_*142delinsCAGGAA
NM_001256461.1:c.*137_*142delinsCAGGAA	NP_001243390.1:n.*137_*142delinsCAGGAA
NR_046207.1:n.4006_4011delinsCAGGAA
XM_017009771.1:c.*137_*142delinsCAGGAA	XP_016865260.1:n.*137_*142delinsCAGGAA
XR_001742214.1:n.4000_4005delinsCAGGAA
NM_001046.3:c.*137_*142delinsCAGGAA MANE Select	NP_001037.1:n.*137_*142delinsCAGGAA
NM_001256461.2:c.*137_*142delinsCAGGAA	NP_001243390.1:n.*137_*142delinsCAGGAA
NR_046207.2:n.4031_4036delinsCAGGAA