Canonical Allele Identifier: CA2627634870

Gene: SLC12A6

Linked Data

• gnomAD v4: 15-34260810-CTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34260812_34260814del , CM000677.2:g.34260812_34260814del	GRCh38
NC_000015.9:g.34553013_34553015del , CM000677.1:g.34553013_34553015del	GRCh37
NC_000015.8:g.32340305_32340307del	NCBI36
NG_007951.1:g.82252_82254del , LRG_270:g.82252_82254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.411+113_411+115del MANE Select	ENSP00000346112.3:n.411+113_411+115del
ENST00000675289.1:n.1193+113_1193+115del
ENST00000676379.1:c.411+113_411+115del	ENSP00000502539.1:n.411+113_411+115del
ENST00000290209.9:c.258+113_258+115del	ENSP00000290209.5:n.258+113_258+115del
ENST00000354181.7:c.411+113_411+115del	ENSP00000346112.3:n.411+113_411+115del
ENST00000397702.6:c.234+113_234+115del	ENSP00000380814.2:n.234+113_234+115del
ENST00000397707.6:c.366+113_366+115del	ENSP00000380819.2:n.366+113_366+115del
ENST00000458406.6:c.234+113_234+115del	ENSP00000387725.2:n.234+113_234+115del
ENST00000558589.5:c.384+113_384+115del	ENSP00000452776.1:n.384+113_384+115del
ENST00000558667.5:c.411+113_411+115del	ENSP00000453473.1:n.411+113_411+115del
ENST00000559523.5:c.234+113_234+115del	ENSP00000452904.1:n.234+113_234+115del
ENST00000559664.5:c.411+113_411+115del	ENSP00000453702.1:n.411+113_411+115del
ENST00000560164.5:c.-7+113_-7+115del	ENSP00000452705.1:n.-7+113_-7+115del
ENST00000560332.1:c.-7+113_-7+115del	ENSP00000454037.1:n.-7+113_-7+115del
ENST00000560611.5:c.411+113_411+115del	ENSP00000454168.1:n.411+113_411+115del
ENST00000561080.5:c.411+113_411+115del	ENSP00000454069.1:n.411+113_411+115del
ENST00000561120.5:c.384+113_384+115del	ENSP00000452771.1:n.384+113_384+115del
NM_001042494.1:c.234+113_234+115del	NP_001035959.1:n.234+113_234+115del
NM_001042495.1:c.234+113_234+115del	NP_001035960.1:n.234+113_234+115del
NM_001042496.1:c.384+113_384+115del	NP_001035961.1:n.384+113_384+115del
NM_001042497.1:c.366+113_366+115del	NP_001035962.1:n.366+113_366+115del
NM_005135.2:c.258+113_258+115del , LRG_270t1:c.258+113_258+115del	NP_005126.1:n.258+113_258+115del
NM_133647.1:c.411+113_411+115del , LRG_270t2:c.411+113_411+115del	NP_598408.1:n.411+113_411+115del
XM_006720793.2:c.411+113_411+115del	XP_006720856.1:n.411+113_411+115del
XM_011522267.1:c.411+113_411+115del	XP_011520569.1:n.411+113_411+115del
XM_011522268.1:c.411+113_411+115del	XP_011520570.1:n.411+113_411+115del
XM_011522269.1:c.411+113_411+115del	XP_011520571.1:n.411+113_411+115del
XR_429476.2:n.417+113_417+115del
XR_931960.1:n.417+113_417+115del
XR_931961.1:n.417+113_417+115del
NM_001365088.1:c.411+113_411+115del MANE Select	NP_001352017.1:n.411+113_411+115del
XM_006720793.4:c.411+113_411+115del	XP_006720856.1:n.411+113_411+115del
XM_011522269.3:c.411+113_411+115del	XP_011520571.1:n.411+113_411+115del
XR_931960.3:n.1661+113_1661+115del
NM_001042494.2:c.234+113_234+115del	NP_001035959.1:n.234+113_234+115del
NM_001042495.2:c.234+113_234+115del	NP_001035960.1:n.234+113_234+115del
NM_001042496.2:c.384+113_384+115del	NP_001035961.1:n.384+113_384+115del
NM_001042497.2:c.366+113_366+115del	NP_001035962.1:n.366+113_366+115del
NM_133647.2:c.411+113_411+115del	NP_598408.1:n.411+113_411+115del