Canonical Allele Identifier: CA576448092

Gene: SLC12A9

Linked Data

• dbSNP Id: rs1448158396
• gnomAD v2: 7-100458266-TG-T
• gnomAD v3: 7-100860644-TG-T
• gnomAD v4: 7-100860644-TG-T
• MyVariant Identifiers: chr7:g.100458267del (hg19) ; chr7:g.100860645del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860647del , CM000669.2:g.100860647del	GRCh38
NC_000007.13:g.100458269del , CM000669.1:g.100458269del	GRCh37
NC_000007.12:g.100296205del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1218+415del MANE Select	ENSP00000275730.4:n.1218+415del
ENST00000354161.7:c.1218+415del	ENSP00000275730.4:n.1218+415del
ENST00000415287.5:c.951+415del	ENSP00000413796.1:n.951+415del
ENST00000416675.5:c.642+415del	ENSP00000410692.1:n.642+415del
ENST00000418037.5:c.426+415del	ENSP00000406560.1:n.426+415del
ENST00000448342.5:c.*177-365del	ENSP00000401583.1:n.*177-365del
ENST00000467972.5:n.2502+415del
ENST00000475623.1:n.497del
ENST00000475687.5:n.2197+415del
ENST00000487651.5:n.1912del
ENST00000540482.5:c.1218+415del	ENSP00000443702.1:n.1218+415del
NM_001267812.1:c.1218+415del	NP_001254741.1:n.1218+415del
NM_001267814.1:c.951+415del	NP_001254743.1:n.951+415del
NM_020246.3:c.1218+415del	NP_064631.2:n.1218+415del
XM_005250502.2:c.951+415del	XP_005250559.1:n.951+415del
XM_005250504.3:c.144+415del	XP_005250561.1:n.144+415del
XM_006716054.2:c.951+415del	XP_006716117.1:n.951+415del
XM_006716055.2:c.909+415del	XP_006716118.1:n.909+415del
XM_011516413.1:c.783+415del	XP_011514715.1:n.783+415del
XM_011516414.1:c.642+415del	XP_011514716.1:n.642+415del
NM_001363493.1:c.1218+415del	NP_001350422.1:n.1218+415del
NM_001363494.1:c.789+415del	NP_001350423.1:n.789+415del
XM_005250504.4:c.144+415del	XP_005250561.1:n.144+415del
XM_006716055.3:c.909+415del	XP_006716118.1:n.909+415del
NM_020246.4:c.1218+415del MANE Select	NP_064631.2:n.1218+415del
NM_001267814.2:c.951+415del	NP_001254743.1:n.951+415del
NM_001363493.2:c.1218+415del	NP_001350422.1:n.1218+415del
NM_001267812.2:c.1218+415del	NP_001254741.1:n.1218+415del