Canonical Allele Identifier: CA2627634790

Gene: SLC12A6

Linked Data

• gnomAD v4: 15-34260785-CTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34260786_34260788del , CM000677.2:g.34260786_34260788del	GRCh38
NC_000015.9:g.34552987_34552989del , CM000677.1:g.34552987_34552989del	GRCh37
NC_000015.8:g.32340279_32340281del	NCBI36
NG_007951.1:g.82277_82279del , LRG_270:g.82277_82279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.411+138_411+140del MANE Select	ENSP00000346112.3:n.411+138_411+140del
ENST00000675289.1:n.1193+138_1193+140del
ENST00000676379.1:c.411+138_411+140del	ENSP00000502539.1:n.411+138_411+140del
ENST00000290209.9:c.258+138_258+140del	ENSP00000290209.5:n.258+138_258+140del
ENST00000354181.7:c.411+138_411+140del	ENSP00000346112.3:n.411+138_411+140del
ENST00000397702.6:c.234+138_234+140del	ENSP00000380814.2:n.234+138_234+140del
ENST00000397707.6:c.366+138_366+140del	ENSP00000380819.2:n.366+138_366+140del
ENST00000458406.6:c.234+138_234+140del	ENSP00000387725.2:n.234+138_234+140del
ENST00000558589.5:c.384+138_384+140del	ENSP00000452776.1:n.384+138_384+140del
ENST00000558667.5:c.411+138_411+140del	ENSP00000453473.1:n.411+138_411+140del
ENST00000559523.5:c.234+138_234+140del	ENSP00000452904.1:n.234+138_234+140del
ENST00000559664.5:c.411+138_411+140del	ENSP00000453702.1:n.411+138_411+140del
ENST00000560164.5:c.-7+138_-7+140del	ENSP00000452705.1:n.-7+138_-7+140del
ENST00000560332.1:c.-7+138_-7+140del	ENSP00000454037.1:n.-7+138_-7+140del
ENST00000560611.5:c.411+138_411+140del	ENSP00000454168.1:n.411+138_411+140del
ENST00000561080.5:c.411+138_411+140del	ENSP00000454069.1:n.411+138_411+140del
ENST00000561120.5:c.384+138_384+140del	ENSP00000452771.1:n.384+138_384+140del
NM_001042494.1:c.234+138_234+140del	NP_001035959.1:n.234+138_234+140del
NM_001042495.1:c.234+138_234+140del	NP_001035960.1:n.234+138_234+140del
NM_001042496.1:c.384+138_384+140del	NP_001035961.1:n.384+138_384+140del
NM_001042497.1:c.366+138_366+140del	NP_001035962.1:n.366+138_366+140del
NM_005135.2:c.258+138_258+140del , LRG_270t1:c.258+138_258+140del	NP_005126.1:n.258+138_258+140del
NM_133647.1:c.411+138_411+140del , LRG_270t2:c.411+138_411+140del	NP_598408.1:n.411+138_411+140del
XM_006720793.2:c.411+138_411+140del	XP_006720856.1:n.411+138_411+140del
XM_011522267.1:c.411+138_411+140del	XP_011520569.1:n.411+138_411+140del
XM_011522268.1:c.411+138_411+140del	XP_011520570.1:n.411+138_411+140del
XM_011522269.1:c.411+138_411+140del	XP_011520571.1:n.411+138_411+140del
XR_429476.2:n.417+138_417+140del
XR_931960.1:n.417+138_417+140del
XR_931961.1:n.417+138_417+140del
NM_001365088.1:c.411+138_411+140del MANE Select	NP_001352017.1:n.411+138_411+140del
XM_006720793.4:c.411+138_411+140del	XP_006720856.1:n.411+138_411+140del
XM_011522269.3:c.411+138_411+140del	XP_011520571.1:n.411+138_411+140del
XR_931960.3:n.1661+138_1661+140del
NM_001042494.2:c.234+138_234+140del	NP_001035959.1:n.234+138_234+140del
NM_001042495.2:c.234+138_234+140del	NP_001035960.1:n.234+138_234+140del
NM_001042496.2:c.384+138_384+140del	NP_001035961.1:n.384+138_384+140del
NM_001042497.2:c.366+138_366+140del	NP_001035962.1:n.366+138_366+140del
NM_133647.2:c.411+138_411+140del	NP_598408.1:n.411+138_411+140del