Canonical Allele Identifier: CA2788176292
Gene: SLC16A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.59707300_59707358del , CM000672.2:g.59707300_59707358del GRCh38
NC_000010.10:g.61467058_61467116del , CM000672.1:g.61467058_61467116del GRCh37
NC_000010.9:g.61137064_61137122del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395348.8:c.-37+2123_-37+2181del MANE Select ENSP00000378757.3:n.-37+2123_-37+2181del
ENST00000395347.1:c.-36-23029_-36-22971del ENSP00000378756.1:n.-36-23029_-36-22971del
ENST00000395348.7:c.-37+2123_-37+2181del ENSP00000378757.3:n.-37+2123_-37+2181del
ENST00000490066.1:n.222+1250_222+1308del
NM_194298.2:c.-37+2123_-37+2181del NP_919274.1:n.-37+2123_-37+2181del
NM_001323977.1:c.-168+2656_-168+2714del NP_001310906.1:n.-168+2656_-168+2714del
NM_001323978.1:c.-250-168_-250-110del NP_001310907.1:n.-250-168_-250-110del
NM_001323979.1:c.-168+2353_-168+2411del NP_001310908.1:n.-168+2353_-168+2411del
NM_001323980.1:c.-168+2123_-168+2181del NP_001310909.1:n.-168+2123_-168+2181del
NM_001323981.1:c.-119-168_-119-110del NP_001310910.1:n.-119-168_-119-110del
XM_017015883.1:c.-37+2123_-37+2181del XP_016871372.1:n.-37+2123_-37+2181del
XM_017015884.2:c.-182+2123_-182+2181del XP_016871373.1:n.-182+2123_-182+2181del
NM_001323978.2:c.-250-168_-250-110del NP_001310907.1:n.-250-168_-250-110del
NM_001323979.2:c.-168+2353_-168+2411del NP_001310908.1:n.-168+2353_-168+2411del
NM_001323980.2:c.-168+2123_-168+2181del NP_001310909.1:n.-168+2123_-168+2181del
NM_001323981.2:c.-119-168_-119-110del NP_001310910.1:n.-119-168_-119-110del
NM_194298.3:c.-37+2123_-37+2181del MANE Select NP_919274.1:n.-37+2123_-37+2181del