Canonical Allele Identifier: CA2684156347

Gene: SLC12A9

Linked Data

• gnomAD v4: 7-100860599-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860601_100860602del , CM000669.2:g.100860601_100860602del	GRCh38
NC_000007.13:g.100458223_100458224del , CM000669.1:g.100458223_100458224del	GRCh37
NC_000007.12:g.100296159_100296160del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1218+369_1218+370del MANE Select	ENSP00000275730.4:n.1218+369_1218+370del
ENST00000354161.7:c.1218+369_1218+370del	ENSP00000275730.4:n.1218+369_1218+370del
ENST00000415287.5:c.951+369_951+370del	ENSP00000413796.1:n.951+369_951+370del
ENST00000416675.5:c.642+369_642+370del	ENSP00000410692.1:n.642+369_642+370del
ENST00000418037.5:c.426+369_426+370del	ENSP00000406560.1:n.426+369_426+370del
ENST00000448342.5:c.*176+369_*176+370del	ENSP00000401583.1:n.*176+369_*176+370del
ENST00000467972.5:n.2502+369_2502+370del
ENST00000475623.1:n.451_452del
ENST00000475687.5:n.2197+369_2197+370del
ENST00000487651.5:n.1866_1867del
ENST00000540482.5:c.1218+369_1218+370del	ENSP00000443702.1:n.1218+369_1218+370del
NM_001267812.1:c.1218+369_1218+370del	NP_001254741.1:n.1218+369_1218+370del
NM_001267814.1:c.951+369_951+370del	NP_001254743.1:n.951+369_951+370del
NM_020246.3:c.1218+369_1218+370del	NP_064631.2:n.1218+369_1218+370del
XM_005250502.2:c.951+369_951+370del	XP_005250559.1:n.951+369_951+370del
XM_005250504.3:c.144+369_144+370del	XP_005250561.1:n.144+369_144+370del
XM_006716054.2:c.951+369_951+370del	XP_006716117.1:n.951+369_951+370del
XM_006716055.2:c.909+369_909+370del	XP_006716118.1:n.909+369_909+370del
XM_011516413.1:c.783+369_783+370del	XP_011514715.1:n.783+369_783+370del
XM_011516414.1:c.642+369_642+370del	XP_011514716.1:n.642+369_642+370del
NM_001363493.1:c.1218+369_1218+370del	NP_001350422.1:n.1218+369_1218+370del
NM_001363494.1:c.789+369_789+370del	NP_001350423.1:n.789+369_789+370del
XM_005250504.4:c.144+369_144+370del	XP_005250561.1:n.144+369_144+370del
XM_006716055.3:c.909+369_909+370del	XP_006716118.1:n.909+369_909+370del
NM_020246.4:c.1218+369_1218+370del MANE Select	NP_064631.2:n.1218+369_1218+370del
NM_001267814.2:c.951+369_951+370del	NP_001254743.1:n.951+369_951+370del
NM_001363493.2:c.1218+369_1218+370del	NP_001350422.1:n.1218+369_1218+370del
NM_001267812.2:c.1218+369_1218+370del	NP_001254741.1:n.1218+369_1218+370del