Canonical Allele Identifier: CA7464089

Gene: SLC12A6

Linked Data

• dbSNP Id: rs780770535
• ExAC: 15:34532850 CCTGA / C
• gnomAD v2: 15-34532850-CCTGA-C
• gnomAD v4: 15-34240649-CCTGA-C
• MyVariant Identifiers: chr15:g.34532851_34532854del (hg19) ; chr15:g.34240650_34240653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34240652_34240655del , CM000677.2:g.34240652_34240655del	GRCh38
NC_000015.9:g.34532853_34532856del , CM000677.1:g.34532853_34532856del	GRCh37
NC_000015.8:g.32320145_32320148del	NCBI36
NG_007951.1:g.102412_102415del , LRG_270:g.102412_102415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.2436+8_2436+11del MANE Select	ENSP00000346112.3:n.2436+8_2436+11del
ENST00000676379.1:c.2436+8_2436+11del	ENSP00000502539.1:n.2436+8_2436+11del
ENST00000290209.9:c.2283+8_2283+11del	ENSP00000290209.5:n.2283+8_2283+11del
ENST00000354181.7:c.2436+8_2436+11del	ENSP00000346112.3:n.2436+8_2436+11del
ENST00000397702.6:c.2259+8_2259+11del	ENSP00000380814.2:n.2259+8_2259+11del
ENST00000397707.6:c.2391+8_2391+11del	ENSP00000380819.2:n.2391+8_2391+11del
ENST00000458406.6:c.2259+8_2259+11del	ENSP00000387725.2:n.2259+8_2259+11del
ENST00000558589.5:c.2409+8_2409+11del	ENSP00000452776.1:n.2409+8_2409+11del
ENST00000558667.5:c.2436+8_2436+11del	ENSP00000453473.1:n.2436+8_2436+11del
ENST00000558950.1:n.384+8_384+11del
ENST00000559523.5:c.2259+8_2259+11del	ENSP00000452904.1:n.2259+8_2259+11del
ENST00000559664.5:c.2436+8_2436+11del	ENSP00000453702.1:n.2436+8_2436+11del
ENST00000560164.5:c.1872+8_1872+11del	ENSP00000452705.1:n.1872+8_1872+11del
ENST00000560611.5:c.2436+8_2436+11del	ENSP00000454168.1:n.2436+8_2436+11del
ENST00000561080.5:c.2436+8_2436+11del	ENSP00000454069.1:n.2436+8_2436+11del
NM_001042494.1:c.2259+8_2259+11del	NP_001035959.1:n.2259+8_2259+11del
NM_001042495.1:c.2259+8_2259+11del	NP_001035960.1:n.2259+8_2259+11del
NM_001042496.1:c.2409+8_2409+11del	NP_001035961.1:n.2409+8_2409+11del
NM_001042497.1:c.2391+8_2391+11del	NP_001035962.1:n.2391+8_2391+11del
NM_005135.2:c.2283+8_2283+11del , LRG_270t1:c.2283+8_2283+11del	NP_005126.1:n.2283+8_2283+11del
NM_133647.1:c.2436+8_2436+11del , LRG_270t2:c.2436+8_2436+11del	NP_598408.1:n.2436+8_2436+11del
XM_006720793.2:c.2289+8_2289+11del	XP_006720856.1:n.2289+8_2289+11del
XM_011522267.1:c.2436+8_2436+11del	XP_011520569.1:n.2436+8_2436+11del
XM_011522268.1:c.2436+8_2436+11del	XP_011520570.1:n.2436+8_2436+11del
XR_429476.2:n.2442+8_2442+11del
XR_931960.1:n.2442+8_2442+11del
XR_931961.1:n.2443+8_2443+11del
NM_001365088.1:c.2436+8_2436+11del MANE Select	NP_001352017.1:n.2436+8_2436+11del
XM_006720793.4:c.2289+8_2289+11del	XP_006720856.1:n.2289+8_2289+11del
XR_931960.3:n.3686+8_3686+11del
NM_001042494.2:c.2259+8_2259+11del	NP_001035959.1:n.2259+8_2259+11del
NM_001042495.2:c.2259+8_2259+11del	NP_001035960.1:n.2259+8_2259+11del
NM_001042496.2:c.2409+8_2409+11del	NP_001035961.1:n.2409+8_2409+11del
NM_001042497.2:c.2391+8_2391+11del	NP_001035962.1:n.2391+8_2391+11del
NM_133647.2:c.2436+8_2436+11del	NP_598408.1:n.2436+8_2436+11del