Canonical Allele Identifier: CA268643485

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 1263235
• ClinVar RCV Id: RCV001672052
• dbSNP Id: rs139124111
• gnomAD v2: 15-34553006-ATTTTC-A
• gnomAD v3: 15-34260805-ATTTTC-A
• gnomAD v4: 15-34260805-ATTTTC-A
• MyVariant Identifiers: chr15:g.34553007_34553011del (hg19) ; chr15:g.34260806_34260810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34260810_34260814del , CM000677.2:g.34260810_34260814del	GRCh38
NC_000015.9:g.34553011_34553015del , CM000677.1:g.34553011_34553015del	GRCh37
NC_000015.8:g.32340303_32340307del	NCBI36
NG_007951.1:g.82255_82259del , LRG_270:g.82255_82259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.411+116_411+120del MANE Select	ENSP00000346112.3:n.411+116_411+120del
ENST00000675289.1:n.1193+116_1193+120del
ENST00000676379.1:c.411+116_411+120del	ENSP00000502539.1:n.411+116_411+120del
ENST00000290209.9:c.258+116_258+120del	ENSP00000290209.5:n.258+116_258+120del
ENST00000354181.7:c.411+116_411+120del	ENSP00000346112.3:n.411+116_411+120del
ENST00000397702.6:c.234+116_234+120del	ENSP00000380814.2:n.234+116_234+120del
ENST00000397707.6:c.366+116_366+120del	ENSP00000380819.2:n.366+116_366+120del
ENST00000458406.6:c.234+116_234+120del	ENSP00000387725.2:n.234+116_234+120del
ENST00000558589.5:c.384+116_384+120del	ENSP00000452776.1:n.384+116_384+120del
ENST00000558667.5:c.411+116_411+120del	ENSP00000453473.1:n.411+116_411+120del
ENST00000559523.5:c.234+116_234+120del	ENSP00000452904.1:n.234+116_234+120del
ENST00000559664.5:c.411+116_411+120del	ENSP00000453702.1:n.411+116_411+120del
ENST00000560164.5:c.-7+116_-7+120del	ENSP00000452705.1:n.-7+116_-7+120del
ENST00000560332.1:c.-7+116_-7+120del	ENSP00000454037.1:n.-7+116_-7+120del
ENST00000560611.5:c.411+116_411+120del	ENSP00000454168.1:n.411+116_411+120del
ENST00000561080.5:c.411+116_411+120del	ENSP00000454069.1:n.411+116_411+120del
ENST00000561120.5:c.384+116_384+120del	ENSP00000452771.1:n.384+116_384+120del
NM_001042494.1:c.234+116_234+120del	NP_001035959.1:n.234+116_234+120del
NM_001042495.1:c.234+116_234+120del	NP_001035960.1:n.234+116_234+120del
NM_001042496.1:c.384+116_384+120del	NP_001035961.1:n.384+116_384+120del
NM_001042497.1:c.366+116_366+120del	NP_001035962.1:n.366+116_366+120del
NM_005135.2:c.258+116_258+120del , LRG_270t1:c.258+116_258+120del	NP_005126.1:n.258+116_258+120del
NM_133647.1:c.411+116_411+120del , LRG_270t2:c.411+116_411+120del	NP_598408.1:n.411+116_411+120del
XM_006720793.2:c.411+116_411+120del	XP_006720856.1:n.411+116_411+120del
XM_011522267.1:c.411+116_411+120del	XP_011520569.1:n.411+116_411+120del
XM_011522268.1:c.411+116_411+120del	XP_011520570.1:n.411+116_411+120del
XM_011522269.1:c.411+116_411+120del	XP_011520571.1:n.411+116_411+120del
XR_429476.2:n.417+116_417+120del
XR_931960.1:n.417+116_417+120del
XR_931961.1:n.417+116_417+120del
NM_001365088.1:c.411+116_411+120del MANE Select	NP_001352017.1:n.411+116_411+120del
XM_006720793.4:c.411+116_411+120del	XP_006720856.1:n.411+116_411+120del
XM_011522269.3:c.411+116_411+120del	XP_011520571.1:n.411+116_411+120del
XR_931960.3:n.1661+116_1661+120del
NM_001042494.2:c.234+116_234+120del	NP_001035959.1:n.234+116_234+120del
NM_001042495.2:c.234+116_234+120del	NP_001035960.1:n.234+116_234+120del
NM_001042496.2:c.384+116_384+120del	NP_001035961.1:n.384+116_384+120del
NM_001042497.2:c.366+116_366+120del	NP_001035962.1:n.366+116_366+120del
NM_133647.2:c.411+116_411+120del	NP_598408.1:n.411+116_411+120del