Canonical Allele Identifier: CA830535564

Gene: SLC12A9

Linked Data

• dbSNP Id: rs1446223710
• gnomAD v3: 7-100860641-CTG-C
• gnomAD v4: 7-100860641-CTG-C
• MyVariant Identifiers: chr7:g.100458264_100458265del (hg19) ; chr7:g.100860642_100860643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860644_100860645del , CM000669.2:g.100860644_100860645del	GRCh38
NC_000007.13:g.100458266_100458267del , CM000669.1:g.100458266_100458267del	GRCh37
NC_000007.12:g.100296202_100296203del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1218+412_1218+413del MANE Select	ENSP00000275730.4:n.1218+412_1218+413del
ENST00000354161.7:c.1218+412_1218+413del	ENSP00000275730.4:n.1218+412_1218+413del
ENST00000415287.5:c.951+412_951+413del	ENSP00000413796.1:n.951+412_951+413del
ENST00000416675.5:c.642+412_642+413del	ENSP00000410692.1:n.642+412_642+413del
ENST00000418037.5:c.426+412_426+413del	ENSP00000406560.1:n.426+412_426+413del
ENST00000448342.5:c.*177-368_*177-367del	ENSP00000401583.1:n.*177-368_*177-367del
ENST00000467972.5:n.2502+412_2502+413del
ENST00000475623.1:n.494_495del
ENST00000475687.5:n.2197+412_2197+413del
ENST00000487651.5:n.1909_1910del
ENST00000540482.5:c.1218+412_1218+413del	ENSP00000443702.1:n.1218+412_1218+413del
NM_001267812.1:c.1218+412_1218+413del	NP_001254741.1:n.1218+412_1218+413del
NM_001267814.1:c.951+412_951+413del	NP_001254743.1:n.951+412_951+413del
NM_020246.3:c.1218+412_1218+413del	NP_064631.2:n.1218+412_1218+413del
XM_005250502.2:c.951+412_951+413del	XP_005250559.1:n.951+412_951+413del
XM_005250504.3:c.144+412_144+413del	XP_005250561.1:n.144+412_144+413del
XM_006716054.2:c.951+412_951+413del	XP_006716117.1:n.951+412_951+413del
XM_006716055.2:c.909+412_909+413del	XP_006716118.1:n.909+412_909+413del
XM_011516413.1:c.783+412_783+413del	XP_011514715.1:n.783+412_783+413del
XM_011516414.1:c.642+412_642+413del	XP_011514716.1:n.642+412_642+413del
NM_001363493.1:c.1218+412_1218+413del	NP_001350422.1:n.1218+412_1218+413del
NM_001363494.1:c.789+412_789+413del	NP_001350423.1:n.789+412_789+413del
XM_005250504.4:c.144+412_144+413del	XP_005250561.1:n.144+412_144+413del
XM_006716055.3:c.909+412_909+413del	XP_006716118.1:n.909+412_909+413del
NM_020246.4:c.1218+412_1218+413del MANE Select	NP_064631.2:n.1218+412_1218+413del
NM_001267814.2:c.951+412_951+413del	NP_001254743.1:n.951+412_951+413del
NM_001363493.2:c.1218+412_1218+413del	NP_001350422.1:n.1218+412_1218+413del
NM_001267812.2:c.1218+412_1218+413del	NP_001254741.1:n.1218+412_1218+413del