Canonical Allele Identifier: CA1729531279
Gene: SLC12A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100860723_100860761delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG , CM000669.2:g.100860723_100860761delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG GRCh38
NC_000007.13:g.100458345_100458383delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG , CM000669.1:g.100458345_100458383delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG GRCh37
NC_000007.12:g.100296281_100296319delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354161.8:c.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG MANE Select ENSP00000275730.4:n.1219-415_1219-377delinsAGGGTTCATTGACACTTT...
ENST00000354161.7:c.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG ENSP00000275730.4:n.1219-415_1219-377delinsAGGGTTCATTGACACTTT...
ENST00000415287.5:c.952-415_952-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG ENSP00000413796.1:n.952-415_952-377delinsAGGGTTCATTGACACTTTGG...
ENST00000416675.5:c.643-415_643-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG ENSP00000410692.1:n.643-415_643-377delinsAGGGTTCATTGACACTTTGG...
ENST00000418037.5:c.427-415_427-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG ENSP00000406560.1:n.427-415_427-377delinsAGGGTTCATTGACACTTTGG...
ENST00000448342.5:c.*177-289_*177-251delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG ENSP00000401583.1:n.*177-289_*177-251delinsAGGGTTCATTGACACTTT...
ENST00000467972.5:n.2503-415_2503-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG
ENST00000475623.1:n.573_611delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG
ENST00000475687.5:n.2198-415_2198-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG
ENST00000487651.5:n.1988_2026delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG
ENST00000540482.5:c.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG ENSP00000443702.1:n.1219-415_1219-377delinsAGGGTTCATTGACACTTT...
NM_001267812.1:c.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG NP_001254741.1:n.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGG...
NM_001267814.1:c.952-415_952-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG NP_001254743.1:n.952-415_952-377delinsAGGGTTCATTGACACTTTGGGGT...
NM_020246.3:c.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG NP_064631.2:n.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTG...
XM_005250502.2:c.952-415_952-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG XP_005250559.1:n.952-415_952-377delinsAGGGTTCATTGACACTTTGGGGT...
XM_005250504.3:c.145-415_145-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG XP_005250561.1:n.145-415_145-377delinsAGGGTTCATTGACACTTTGGGGT...
XM_006716054.2:c.952-415_952-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG XP_006716117.1:n.952-415_952-377delinsAGGGTTCATTGACACTTTGGGGT...
XM_006716055.2:c.910-415_910-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG XP_006716118.1:n.910-415_910-377delinsAGGGTTCATTGACACTTTGGGGT...
XM_011516413.1:c.784-415_784-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG XP_011514715.1:n.784-415_784-377delinsAGGGTTCATTGACACTTTGGGGT...
XM_011516414.1:c.643-415_643-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG XP_011514716.1:n.643-415_643-377delinsAGGGTTCATTGACACTTTGGGGT...
NM_001363493.1:c.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG NP_001350422.1:n.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGG...
NM_001363494.1:c.790-415_790-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG NP_001350423.1:n.790-415_790-377delinsAGGGTTCATTGACACTTTGGGGT...
XM_005250504.4:c.145-415_145-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG XP_005250561.1:n.145-415_145-377delinsAGGGTTCATTGACACTTTGGGGT...
XM_006716055.3:c.910-415_910-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG XP_006716118.1:n.910-415_910-377delinsAGGGTTCATTGACACTTTGGGGT...
NM_020246.4:c.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG MANE Select NP_064631.2:n.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTG...
NM_001267814.2:c.952-415_952-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG NP_001254743.1:n.952-415_952-377delinsAGGGTTCATTGACACTTTGGGGT...
NM_001363493.2:c.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG NP_001350422.1:n.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGG...
NM_001267812.2:c.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGGGTGCACTGGCACTCTCTG NP_001254741.1:n.1219-415_1219-377delinsAGGGTTCATTGACACTTTGGG...