Canonical Allele Identifier: CA7464538

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 670564
• ClinVar RCV Id: RCV000829719
• dbSNP Id: rs56033911
• ExAC: 15:34550009 T / TA
• gnomAD v2: 15-34550009-T-TA
• gnomAD v3: 15-34257808-T-TA
• gnomAD v4: 15-34257808-T-TA
• MyVariant Identifiers: chr15:g.34550009_34550010insA (hg19) ; chr15:g.34257808_34257809insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257814dup , CM000677.2:g.34257814dup	GRCh38
NC_000015.9:g.34550015dup , CM000677.1:g.34550015dup	GRCh37
NC_000015.8:g.32337307dup	NCBI36
NG_007951.1:g.85256dup , LRG_270:g.85256dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.544-21dup MANE Select	ENSP00000346112.3:n.544-21dup
ENST00000675289.1:n.1326-21dup
ENST00000676379.1:c.544-21dup	ENSP00000502539.1:n.544-21dup
ENST00000290209.9:c.391-21dup	ENSP00000290209.5:n.391-21dup
ENST00000354181.7:c.544-21dup	ENSP00000346112.3:n.544-21dup
ENST00000397702.6:c.367-21dup	ENSP00000380814.2:n.367-21dup
ENST00000397707.6:c.499-21dup	ENSP00000380819.2:n.499-21dup
ENST00000458406.6:c.367-21dup	ENSP00000387725.2:n.367-21dup
ENST00000558589.5:c.517-21dup	ENSP00000452776.1:n.517-21dup
ENST00000558667.5:c.544-21dup	ENSP00000453473.1:n.544-21dup
ENST00000559523.5:c.367-21dup	ENSP00000452904.1:n.367-21dup
ENST00000559664.5:c.544-21dup	ENSP00000453702.1:n.544-21dup
ENST00000560164.5:c.126+1004dup	ENSP00000452705.1:n.126+1004dup
ENST00000560332.1:c.127-21dup	ENSP00000454037.1:n.127-21dup
ENST00000560611.5:c.544-21dup	ENSP00000454168.1:n.544-21dup
ENST00000561080.5:c.544-21dup	ENSP00000454069.1:n.544-21dup
NM_001042494.1:c.367-21dup	NP_001035959.1:n.367-21dup
NM_001042495.1:c.367-21dup	NP_001035960.1:n.367-21dup
NM_001042496.1:c.517-21dup	NP_001035961.1:n.517-21dup
NM_001042497.1:c.499-21dup	NP_001035962.1:n.499-21dup
NM_005135.2:c.391-21dup , LRG_270t1:c.391-21dup	NP_005126.1:n.391-21dup
NM_133647.1:c.544-21dup , LRG_270t2:c.544-21dup	NP_598408.1:n.544-21dup
XM_006720793.2:c.543+1004dup	XP_006720856.1:n.543+1004dup
XM_011522267.1:c.544-21dup	XP_011520569.1:n.544-21dup
XM_011522268.1:c.544-21dup	XP_011520570.1:n.544-21dup
XM_011522269.1:c.544-21dup	XP_011520571.1:n.544-21dup
XR_429476.2:n.550-21dup
XR_931960.1:n.550-21dup
XR_931961.1:n.550-21dup
NM_001365088.1:c.544-21dup MANE Select	NP_001352017.1:n.544-21dup
XM_006720793.4:c.543+1004dup	XP_006720856.1:n.543+1004dup
XM_011522269.3:c.544-21dup	XP_011520571.1:n.544-21dup
XR_931960.3:n.1794-21dup
NM_001042494.2:c.367-21dup	NP_001035959.1:n.367-21dup
NM_001042495.2:c.367-21dup	NP_001035960.1:n.367-21dup
NM_001042496.2:c.517-21dup	NP_001035961.1:n.517-21dup
NM_001042497.2:c.499-21dup	NP_001035962.1:n.499-21dup
NM_133647.2:c.544-21dup	NP_598408.1:n.544-21dup