Canonical Allele Identifier: CA2572282386

Gene: SLC12A9

Linked Data

• gnomAD v4: 7-100860830-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860830_100860831insGT , CM000669.2:g.100860830_100860831insGT	GRCh38
NC_000007.13:g.100458452_100458453insGT , CM000669.1:g.100458452_100458453insGT	GRCh37
NC_000007.12:g.100296388_100296389insGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1219-308_1219-307insGT MANE Select	ENSP00000275730.4:n.1219-308_1219-307insGT
ENST00000354161.7:c.1219-308_1219-307insGT	ENSP00000275730.4:n.1219-308_1219-307insGT
ENST00000415287.5:c.952-308_952-307insGT	ENSP00000413796.1:n.952-308_952-307insGT
ENST00000416675.5:c.643-308_643-307insGT	ENSP00000410692.1:n.643-308_643-307insGT
ENST00000418037.5:c.427-308_427-307insGT	ENSP00000406560.1:n.427-308_427-307insGT
ENST00000448342.5:c.*177-182_*177-181insGT	ENSP00000401583.1:n.*177-182_*177-181insGT
ENST00000467972.5:n.2503-308_2503-307insGT
ENST00000475623.1:n.680_681insGT
ENST00000475687.5:n.2198-308_2198-307insGT
ENST00000487651.5:n.2095_2096insGT
ENST00000540482.5:c.1219-308_1219-307insGT	ENSP00000443702.1:n.1219-308_1219-307insGT
NM_001267812.1:c.1219-308_1219-307insGT	NP_001254741.1:n.1219-308_1219-307insGT
NM_001267814.1:c.952-308_952-307insGT	NP_001254743.1:n.952-308_952-307insGT
NM_020246.3:c.1219-308_1219-307insGT	NP_064631.2:n.1219-308_1219-307insGT
XM_005250502.2:c.952-308_952-307insGT	XP_005250559.1:n.952-308_952-307insGT
XM_005250504.3:c.145-308_145-307insGT	XP_005250561.1:n.145-308_145-307insGT
XM_006716054.2:c.952-308_952-307insGT	XP_006716117.1:n.952-308_952-307insGT
XM_006716055.2:c.910-308_910-307insGT	XP_006716118.1:n.910-308_910-307insGT
XM_011516413.1:c.784-308_784-307insGT	XP_011514715.1:n.784-308_784-307insGT
XM_011516414.1:c.643-308_643-307insGT	XP_011514716.1:n.643-308_643-307insGT
NM_001363493.1:c.1219-308_1219-307insGT	NP_001350422.1:n.1219-308_1219-307insGT
NM_001363494.1:c.790-308_790-307insGT	NP_001350423.1:n.790-308_790-307insGT
XM_005250504.4:c.145-308_145-307insGT	XP_005250561.1:n.145-308_145-307insGT
XM_006716055.3:c.910-308_910-307insGT	XP_006716118.1:n.910-308_910-307insGT
NM_020246.4:c.1219-308_1219-307insGT MANE Select	NP_064631.2:n.1219-308_1219-307insGT
NM_001267814.2:c.952-308_952-307insGT	NP_001254743.1:n.952-308_952-307insGT
NM_001363493.2:c.1219-308_1219-307insGT	NP_001350422.1:n.1219-308_1219-307insGT
NM_001267812.2:c.1219-308_1219-307insGT	NP_001254741.1:n.1219-308_1219-307insGT