Canonical Allele Identifier: CA576448097

Gene: SLC12A9

Linked Data

• dbSNP Id: rs1467920036
• gnomAD v2: 7-100458403-G-GGGTGCGCTGGCACTTTGCAT
• gnomAD v3: 7-100860781-G-GGGTGCGCTGGCACTTTGCAT
• gnomAD v4: 7-100860781-G-GGGTGCGCTGGCACTTTGCAT
• MyVariant Identifiers: chr7:g.100458403_100458404insGGTGCGCTGGCACTTTGCAT (hg19) ; chr7:g.100860781_100860782insGGTGCGCTGGCACTTTGCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860785_100860804dup , CM000669.2:g.100860785_100860804dup	GRCh38
NC_000007.13:g.100458407_100458426dup , CM000669.1:g.100458407_100458426dup	GRCh37
NC_000007.12:g.100296343_100296362dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1219-353_1219-334dup MANE Select	ENSP00000275730.4:n.1219-353_1219-334dup
ENST00000354161.7:c.1219-353_1219-334dup	ENSP00000275730.4:n.1219-353_1219-334dup
ENST00000415287.5:c.952-353_952-334dup	ENSP00000413796.1:n.952-353_952-334dup
ENST00000416675.5:c.643-353_643-334dup	ENSP00000410692.1:n.643-353_643-334dup
ENST00000418037.5:c.427-353_427-334dup	ENSP00000406560.1:n.427-353_427-334dup
ENST00000448342.5:c.*177-227_*177-208dup	ENSP00000401583.1:n.*177-227_*177-208dup
ENST00000467972.5:n.2503-353_2503-334dup
ENST00000475623.1:n.635_654dup
ENST00000475687.5:n.2198-353_2198-334dup
ENST00000487651.5:n.2050_2069dup
ENST00000540482.5:c.1219-353_1219-334dup	ENSP00000443702.1:n.1219-353_1219-334dup
NM_001267812.1:c.1219-353_1219-334dup	NP_001254741.1:n.1219-353_1219-334dup
NM_001267814.1:c.952-353_952-334dup	NP_001254743.1:n.952-353_952-334dup
NM_020246.3:c.1219-353_1219-334dup	NP_064631.2:n.1219-353_1219-334dup
XM_005250502.2:c.952-353_952-334dup	XP_005250559.1:n.952-353_952-334dup
XM_005250504.3:c.145-353_145-334dup	XP_005250561.1:n.145-353_145-334dup
XM_006716054.2:c.952-353_952-334dup	XP_006716117.1:n.952-353_952-334dup
XM_006716055.2:c.910-353_910-334dup	XP_006716118.1:n.910-353_910-334dup
XM_011516413.1:c.784-353_784-334dup	XP_011514715.1:n.784-353_784-334dup
XM_011516414.1:c.643-353_643-334dup	XP_011514716.1:n.643-353_643-334dup
NM_001363493.1:c.1219-353_1219-334dup	NP_001350422.1:n.1219-353_1219-334dup
NM_001363494.1:c.790-353_790-334dup	NP_001350423.1:n.790-353_790-334dup
XM_005250504.4:c.145-353_145-334dup	XP_005250561.1:n.145-353_145-334dup
XM_006716055.3:c.910-353_910-334dup	XP_006716118.1:n.910-353_910-334dup
NM_020246.4:c.1219-353_1219-334dup MANE Select	NP_064631.2:n.1219-353_1219-334dup
NM_001267814.2:c.952-353_952-334dup	NP_001254743.1:n.952-353_952-334dup
NM_001363493.2:c.1219-353_1219-334dup	NP_001350422.1:n.1219-353_1219-334dup
NM_001267812.2:c.1219-353_1219-334dup	NP_001254741.1:n.1219-353_1219-334dup