Canonical Allele Identifier: CA617184693

Gene: SLC12A6

Linked Data

• dbSNP Id: rs1218768966
• gnomAD v2: 15-34529651-CGTAA-C
• gnomAD v3: 15-34237450-CGTAA-C
• gnomAD v4: 15-34237450-CGTAA-C
• MyVariant Identifiers: chr15:g.34529652_34529655del (hg19) ; chr15:g.34237451_34237454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34237453_34237456del , CM000677.2:g.34237453_34237456del	GRCh38
NC_000015.9:g.34529654_34529657del , CM000677.1:g.34529654_34529657del	GRCh37
NC_000015.8:g.32316946_32316949del	NCBI36
NG_007951.1:g.105611_105614del , LRG_270:g.105611_105614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.2899_2902del MANE Select	ENSP00000346112.3:p.Leu967AlafsTer6
ENST00000676379.1:c.2899_2902del	ENSP00000502539.1:p.Leu967AlafsTer6
ENST00000290209.9:c.2746_2749del	ENSP00000290209.5:p.Leu916AlafsTer6
ENST00000354181.7:c.2899_2902del	ENSP00000346112.3:p.Leu967AlafsTer6
ENST00000397702.6:c.2722_2725del	ENSP00000380814.2:p.Leu908AlafsTer6
ENST00000397707.6:c.2854_2857del	ENSP00000380819.2:p.Leu952AlafsTer6
ENST00000458406.6:c.2722_2725del	ENSP00000387725.2:p.Leu908AlafsTer6
ENST00000558589.5:c.2872_2875del	ENSP00000452776.1:p.Leu958AlafsTer6
ENST00000558667.5:c.2899_2902del	ENSP00000453473.1:p.Leu967AlafsTer6
ENST00000559076.1:n.262_265del
ENST00000559523.5:c.2722_2725del	ENSP00000452904.1:p.Leu908AlafsTer6
ENST00000559664.5:c.*108_*111del	ENSP00000453702.1:n.*108_*111del
ENST00000560164.5:c.2335_2338del	ENSP00000452705.1:p.Leu779AlafsTer6
ENST00000560611.5:c.2899_2902del	ENSP00000454168.1:p.Leu967AlafsTer6
ENST00000561080.5:c.*108_*111del	ENSP00000454069.1:n.*108_*111del
NM_001042494.1:c.2722_2725del	NP_001035959.1:p.Leu908AlafsTer6
NM_001042495.1:c.2722_2725del	NP_001035960.1:p.Leu908AlafsTer6
NM_001042496.1:c.2872_2875del	NP_001035961.1:p.Leu958AlafsTer6
NM_001042497.1:c.2854_2857del	NP_001035962.1:p.Leu952AlafsTer6
NM_005135.2:c.2746_2749del , LRG_270t1:c.2746_2749del	NP_005126.1:p.Leu916AlafsTer6
NM_133647.1:c.2899_2902del , LRG_270t2:c.2899_2902del	NP_598408.1:p.Leu967AlafsTer6
XM_006720793.2:c.2752_2755del	XP_006720856.1:p.Leu918AlafsTer6
XM_011522267.1:c.2899_2902del	XP_011520569.1:p.Leu967AlafsTer6
XM_011522268.1:c.2899_2902del	XP_011520570.1:p.Leu967AlafsTer6
XR_429476.2:n.2905_2908del
XR_931960.1:n.2905_2908del
NM_001365088.1:c.2899_2902del MANE Select	NP_001352017.1:p.Leu967AlafsTer6
XM_006720793.4:c.2752_2755del	XP_006720856.1:p.Leu918AlafsTer6
XR_931960.3:n.4149_4152del
NM_001042494.2:c.2722_2725del	NP_001035959.1:p.Leu908AlafsTer6
NM_001042495.2:c.2722_2725del	NP_001035960.1:p.Leu908AlafsTer6
NM_001042496.2:c.2872_2875del	NP_001035961.1:p.Leu958AlafsTer6
NM_001042497.2:c.2854_2857del	NP_001035962.1:p.Leu952AlafsTer6
NM_133647.2:c.2899_2902del	NP_598408.1:p.Leu967AlafsTer6