Canonical Allele Identifier: CA2684156605

Gene: SLC12A9

Linked Data

• gnomAD v4: 7-100860682-GGGGGTGCACTTGCACTTTACAGGGCTCACGGGCACTTTTCAGGGTTCATTGACACTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860693_100860750del , CM000669.2:g.100860693_100860750del	GRCh38
NC_000007.13:g.100458315_100458372del , CM000669.1:g.100458315_100458372del	GRCh37
NC_000007.12:g.100296251_100296308del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1219-445_1219-388del MANE Select	ENSP00000275730.4:n.1219-445_1219-388del
ENST00000354161.7:c.1219-445_1219-388del	ENSP00000275730.4:n.1219-445_1219-388del
ENST00000415287.5:c.952-445_952-388del	ENSP00000413796.1:n.952-445_952-388del
ENST00000416675.5:c.643-445_643-388del	ENSP00000410692.1:n.643-445_643-388del
ENST00000418037.5:c.427-445_427-388del	ENSP00000406560.1:n.427-445_427-388del
ENST00000448342.5:c.*177-319_*177-262del	ENSP00000401583.1:n.*177-319_*177-262del
ENST00000467972.5:n.2503-445_2503-388del
ENST00000475623.1:n.543_600del
ENST00000475687.5:n.2198-445_2198-388del
ENST00000487651.5:n.1958_2015del
ENST00000540482.5:c.1219-445_1219-388del	ENSP00000443702.1:n.1219-445_1219-388del
NM_001267812.1:c.1219-445_1219-388del	NP_001254741.1:n.1219-445_1219-388del
NM_001267814.1:c.952-445_952-388del	NP_001254743.1:n.952-445_952-388del
NM_020246.3:c.1219-445_1219-388del	NP_064631.2:n.1219-445_1219-388del
XM_005250502.2:c.952-445_952-388del	XP_005250559.1:n.952-445_952-388del
XM_005250504.3:c.145-445_145-388del	XP_005250561.1:n.145-445_145-388del
XM_006716054.2:c.952-445_952-388del	XP_006716117.1:n.952-445_952-388del
XM_006716055.2:c.910-445_910-388del	XP_006716118.1:n.910-445_910-388del
XM_011516413.1:c.784-445_784-388del	XP_011514715.1:n.784-445_784-388del
XM_011516414.1:c.643-445_643-388del	XP_011514716.1:n.643-445_643-388del
NM_001363493.1:c.1219-445_1219-388del	NP_001350422.1:n.1219-445_1219-388del
NM_001363494.1:c.790-445_790-388del	NP_001350423.1:n.790-445_790-388del
XM_005250504.4:c.145-445_145-388del	XP_005250561.1:n.145-445_145-388del
XM_006716055.3:c.910-445_910-388del	XP_006716118.1:n.910-445_910-388del
NM_020246.4:c.1219-445_1219-388del MANE Select	NP_064631.2:n.1219-445_1219-388del
NM_001267814.2:c.952-445_952-388del	NP_001254743.1:n.952-445_952-388del
NM_001363493.2:c.1219-445_1219-388del	NP_001350422.1:n.1219-445_1219-388del
NM_001267812.2:c.1219-445_1219-388del	NP_001254741.1:n.1219-445_1219-388del