Canonical Allele Identifier: CA2684156782

Gene: SLC12A9

Linked Data

• gnomAD v4: 7-100860756-T-TTTGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860756_100860757insTTGGAA , CM000669.2:g.100860756_100860757insTTGGAA	GRCh38
NC_000007.13:g.100458378_100458379insTTGGAA , CM000669.1:g.100458378_100458379insTTGGAA	GRCh37
NC_000007.12:g.100296314_100296315insTTGGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1219-382_1219-381insTTGGAA MANE Select	ENSP00000275730.4:n.1219-382_1219-381insTTGGAA
ENST00000354161.7:c.1219-382_1219-381insTTGGAA	ENSP00000275730.4:n.1219-382_1219-381insTTGGAA
ENST00000415287.5:c.952-382_952-381insTTGGAA	ENSP00000413796.1:n.952-382_952-381insTTGGAA
ENST00000416675.5:c.643-382_643-381insTTGGAA	ENSP00000410692.1:n.643-382_643-381insTTGGAA
ENST00000418037.5:c.427-382_427-381insTTGGAA	ENSP00000406560.1:n.427-382_427-381insTTGGAA
ENST00000448342.5:c.*177-256_*177-255insTTGGAA	ENSP00000401583.1:n.*177-256_*177-255insTTGGAA
ENST00000467972.5:n.2503-382_2503-381insTTGGAA
ENST00000475623.1:n.606_607insTTGGAA
ENST00000475687.5:n.2198-382_2198-381insTTGGAA
ENST00000487651.5:n.2021_2022insTTGGAA
ENST00000540482.5:c.1219-382_1219-381insTTGGAA	ENSP00000443702.1:n.1219-382_1219-381insTTGGAA
NM_001267812.1:c.1219-382_1219-381insTTGGAA	NP_001254741.1:n.1219-382_1219-381insTTGGAA
NM_001267814.1:c.952-382_952-381insTTGGAA	NP_001254743.1:n.952-382_952-381insTTGGAA
NM_020246.3:c.1219-382_1219-381insTTGGAA	NP_064631.2:n.1219-382_1219-381insTTGGAA
XM_005250502.2:c.952-382_952-381insTTGGAA	XP_005250559.1:n.952-382_952-381insTTGGAA
XM_005250504.3:c.145-382_145-381insTTGGAA	XP_005250561.1:n.145-382_145-381insTTGGAA
XM_006716054.2:c.952-382_952-381insTTGGAA	XP_006716117.1:n.952-382_952-381insTTGGAA
XM_006716055.2:c.910-382_910-381insTTGGAA	XP_006716118.1:n.910-382_910-381insTTGGAA
XM_011516413.1:c.784-382_784-381insTTGGAA	XP_011514715.1:n.784-382_784-381insTTGGAA
XM_011516414.1:c.643-382_643-381insTTGGAA	XP_011514716.1:n.643-382_643-381insTTGGAA
NM_001363493.1:c.1219-382_1219-381insTTGGAA	NP_001350422.1:n.1219-382_1219-381insTTGGAA
NM_001363494.1:c.790-382_790-381insTTGGAA	NP_001350423.1:n.790-382_790-381insTTGGAA
XM_005250504.4:c.145-382_145-381insTTGGAA	XP_005250561.1:n.145-382_145-381insTTGGAA
XM_006716055.3:c.910-382_910-381insTTGGAA	XP_006716118.1:n.910-382_910-381insTTGGAA
NM_020246.4:c.1219-382_1219-381insTTGGAA MANE Select	NP_064631.2:n.1219-382_1219-381insTTGGAA
NM_001267814.2:c.952-382_952-381insTTGGAA	NP_001254743.1:n.952-382_952-381insTTGGAA
NM_001363493.2:c.1219-382_1219-381insTTGGAA	NP_001350422.1:n.1219-382_1219-381insTTGGAA
NM_001267812.2:c.1219-382_1219-381insTTGGAA	NP_001254741.1:n.1219-382_1219-381insTTGGAA