Canonical Allele Identifier: CA1729531294

Gene: SLC12A9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860759_100860761delinsCTG , CM000669.2:g.100860759_100860761delinsCTG	GRCh38
NC_000007.13:g.100458381_100458383delinsCTG , CM000669.1:g.100458381_100458383delinsCTG	GRCh37
NC_000007.12:g.100296317_100296319delinsCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1219-379_1219-377delinsCTG MANE Select	ENSP00000275730.4:n.1219-379_1219-377delinsCTG
ENST00000354161.7:c.1219-379_1219-377delinsCTG	ENSP00000275730.4:n.1219-379_1219-377delinsCTG
ENST00000415287.5:c.952-379_952-377delinsCTG	ENSP00000413796.1:n.952-379_952-377delinsCTG
ENST00000416675.5:c.643-379_643-377delinsCTG	ENSP00000410692.1:n.643-379_643-377delinsCTG
ENST00000418037.5:c.427-379_427-377delinsCTG	ENSP00000406560.1:n.427-379_427-377delinsCTG
ENST00000448342.5:c.*177-253_*177-251delinsCTG	ENSP00000401583.1:n.*177-253_*177-251delinsCTG
ENST00000467972.5:n.2503-379_2503-377delinsCTG
ENST00000475623.1:n.609_611delinsCTG
ENST00000475687.5:n.2198-379_2198-377delinsCTG
ENST00000487651.5:n.2024_2026delinsCTG
ENST00000540482.5:c.1219-379_1219-377delinsCTG	ENSP00000443702.1:n.1219-379_1219-377delinsCTG
NM_001267812.1:c.1219-379_1219-377delinsCTG	NP_001254741.1:n.1219-379_1219-377delinsCTG
NM_001267814.1:c.952-379_952-377delinsCTG	NP_001254743.1:n.952-379_952-377delinsCTG
NM_020246.3:c.1219-379_1219-377delinsCTG	NP_064631.2:n.1219-379_1219-377delinsCTG
XM_005250502.2:c.952-379_952-377delinsCTG	XP_005250559.1:n.952-379_952-377delinsCTG
XM_005250504.3:c.145-379_145-377delinsCTG	XP_005250561.1:n.145-379_145-377delinsCTG
XM_006716054.2:c.952-379_952-377delinsCTG	XP_006716117.1:n.952-379_952-377delinsCTG
XM_006716055.2:c.910-379_910-377delinsCTG	XP_006716118.1:n.910-379_910-377delinsCTG
XM_011516413.1:c.784-379_784-377delinsCTG	XP_011514715.1:n.784-379_784-377delinsCTG
XM_011516414.1:c.643-379_643-377delinsCTG	XP_011514716.1:n.643-379_643-377delinsCTG
NM_001363493.1:c.1219-379_1219-377delinsCTG	NP_001350422.1:n.1219-379_1219-377delinsCTG
NM_001363494.1:c.790-379_790-377delinsCTG	NP_001350423.1:n.790-379_790-377delinsCTG
XM_005250504.4:c.145-379_145-377delinsCTG	XP_005250561.1:n.145-379_145-377delinsCTG
XM_006716055.3:c.910-379_910-377delinsCTG	XP_006716118.1:n.910-379_910-377delinsCTG
NM_020246.4:c.1219-379_1219-377delinsCTG MANE Select	NP_064631.2:n.1219-379_1219-377delinsCTG
NM_001267814.2:c.952-379_952-377delinsCTG	NP_001254743.1:n.952-379_952-377delinsCTG
NM_001363493.2:c.1219-379_1219-377delinsCTG	NP_001350422.1:n.1219-379_1219-377delinsCTG
NM_001267812.2:c.1219-379_1219-377delinsCTG	NP_001254741.1:n.1219-379_1219-377delinsCTG