Canonical Allele Identifier: CA830535575

Gene: SLC12A9

Linked Data

• dbSNP Id: rs1450723721
• gnomAD v3: 7-100860723-AGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG-A
• gnomAD v4: 7-100860723-AGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG-A
• MyVariant Identifiers: chr7:g.100458346_100458383del (hg19) ; chr7:g.100860724_100860761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100860745_100860782del , CM000669.2:g.100860745_100860782del	GRCh38
NC_000007.13:g.100458367_100458404del , CM000669.1:g.100458367_100458404del	GRCh37
NC_000007.12:g.100296303_100296340del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354161.8:c.1219-393_1219-356del MANE Select	ENSP00000275730.4:n.1219-393_1219-356del
ENST00000354161.7:c.1219-393_1219-356del	ENSP00000275730.4:n.1219-393_1219-356del
ENST00000415287.5:c.952-393_952-356del	ENSP00000413796.1:n.952-393_952-356del
ENST00000416675.5:c.643-393_643-356del	ENSP00000410692.1:n.643-393_643-356del
ENST00000418037.5:c.427-393_427-356del	ENSP00000406560.1:n.427-393_427-356del
ENST00000448342.5:c.*177-267_*177-230del	ENSP00000401583.1:n.*177-267_*177-230del
ENST00000467972.5:n.2503-393_2503-356del
ENST00000475623.1:n.595_632del
ENST00000475687.5:n.2198-393_2198-356del
ENST00000487651.5:n.2010_2047del
ENST00000540482.5:c.1219-393_1219-356del	ENSP00000443702.1:n.1219-393_1219-356del
NM_001267812.1:c.1219-393_1219-356del	NP_001254741.1:n.1219-393_1219-356del
NM_001267814.1:c.952-393_952-356del	NP_001254743.1:n.952-393_952-356del
NM_020246.3:c.1219-393_1219-356del	NP_064631.2:n.1219-393_1219-356del
XM_005250502.2:c.952-393_952-356del	XP_005250559.1:n.952-393_952-356del
XM_005250504.3:c.145-393_145-356del	XP_005250561.1:n.145-393_145-356del
XM_006716054.2:c.952-393_952-356del	XP_006716117.1:n.952-393_952-356del
XM_006716055.2:c.910-393_910-356del	XP_006716118.1:n.910-393_910-356del
XM_011516413.1:c.784-393_784-356del	XP_011514715.1:n.784-393_784-356del
XM_011516414.1:c.643-393_643-356del	XP_011514716.1:n.643-393_643-356del
NM_001363493.1:c.1219-393_1219-356del	NP_001350422.1:n.1219-393_1219-356del
NM_001363494.1:c.790-393_790-356del	NP_001350423.1:n.790-393_790-356del
XM_005250504.4:c.145-393_145-356del	XP_005250561.1:n.145-393_145-356del
XM_006716055.3:c.910-393_910-356del	XP_006716118.1:n.910-393_910-356del
NM_020246.4:c.1219-393_1219-356del MANE Select	NP_064631.2:n.1219-393_1219-356del
NM_001267814.2:c.952-393_952-356del	NP_001254743.1:n.952-393_952-356del
NM_001363493.2:c.1219-393_1219-356del	NP_001350422.1:n.1219-393_1219-356del
NM_001267812.2:c.1219-393_1219-356del	NP_001254741.1:n.1219-393_1219-356del