Canonical Allele Identifier: CA1729531320
Gene: SLC12A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100860819_100860858delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT , CM000669.2:g.100860819_100860858delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT GRCh38
NC_000007.13:g.100458441_100458480delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT , CM000669.1:g.100458441_100458480delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT GRCh37
NC_000007.12:g.100296377_100296416delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354161.8:c.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT MANE Select ENSP00000275730.4:n.1219-319_1219-280delinsCAGGGTTCACTGACACTT...
ENST00000354161.7:c.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT ENSP00000275730.4:n.1219-319_1219-280delinsCAGGGTTCACTGACACTT...
ENST00000415287.5:c.952-319_952-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT ENSP00000413796.1:n.952-319_952-280delinsCAGGGTTCACTGACACTTTG...
ENST00000416675.5:c.643-319_643-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT ENSP00000410692.1:n.643-319_643-280delinsCAGGGTTCACTGACACTTTG...
ENST00000418037.5:c.427-319_427-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT ENSP00000406560.1:n.427-319_427-280delinsCAGGGTTCACTGACACTTTG...
ENST00000448342.5:c.*177-193_*177-154delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT ENSP00000401583.1:n.*177-193_*177-154delinsCAGGGTTCACTGACACTT...
ENST00000467972.5:n.2503-319_2503-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT
ENST00000475623.1:n.669_708delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT
ENST00000475687.5:n.2198-319_2198-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT
ENST00000487651.5:n.2084_2123delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT
ENST00000540482.5:c.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT ENSP00000443702.1:n.1219-319_1219-280delinsCAGGGTTCACTGACACTT...
NM_001267812.1:c.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT NP_001254741.1:n.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGG...
NM_001267814.1:c.952-319_952-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT NP_001254743.1:n.952-319_952-280delinsCAGGGTTCACTGACACTTTGGGG...
NM_020246.3:c.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT NP_064631.2:n.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGG...
XM_005250502.2:c.952-319_952-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT XP_005250559.1:n.952-319_952-280delinsCAGGGTTCACTGACACTTTGGGG...
XM_005250504.3:c.145-319_145-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT XP_005250561.1:n.145-319_145-280delinsCAGGGTTCACTGACACTTTGGGG...
XM_006716054.2:c.952-319_952-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT XP_006716117.1:n.952-319_952-280delinsCAGGGTTCACTGACACTTTGGGG...
XM_006716055.2:c.910-319_910-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT XP_006716118.1:n.910-319_910-280delinsCAGGGTTCACTGACACTTTGGGG...
XM_011516413.1:c.784-319_784-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT XP_011514715.1:n.784-319_784-280delinsCAGGGTTCACTGACACTTTGGGG...
XM_011516414.1:c.643-319_643-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT XP_011514716.1:n.643-319_643-280delinsCAGGGTTCACTGACACTTTGGGG...
NM_001363493.1:c.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT NP_001350422.1:n.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGG...
NM_001363494.1:c.790-319_790-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT NP_001350423.1:n.790-319_790-280delinsCAGGGTTCACTGACACTTTGGGG...
XM_005250504.4:c.145-319_145-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT XP_005250561.1:n.145-319_145-280delinsCAGGGTTCACTGACACTTTGGGG...
XM_006716055.3:c.910-319_910-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT XP_006716118.1:n.910-319_910-280delinsCAGGGTTCACTGACACTTTGGGG...
NM_020246.4:c.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT MANE Select NP_064631.2:n.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGG...
NM_001267814.2:c.952-319_952-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT NP_001254743.1:n.952-319_952-280delinsCAGGGTTCACTGACACTTTGGGG...
NM_001363493.2:c.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT NP_001350422.1:n.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGG...
NM_001267812.2:c.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGGGGGTACACTGGCACTTTCT NP_001254741.1:n.1219-319_1219-280delinsCAGGGTTCACTGACACTTTGG...