Canonical Allele Identifier: CA666986281

Gene: SLC16A9

Linked Data

• dbSNP Id: rs1160399534
• gnomAD v3: 10-59707275-GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA-G
• gnomAD v4: 10-59707275-GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA-G
• MyVariant Identifiers: chr10:g.61467034_61467063del (hg19) ; chr10:g.59707276_59707305del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.59707306_59707335del , CM000672.2:g.59707306_59707335del	GRCh38
NC_000010.10:g.61467064_61467093del , CM000672.1:g.61467064_61467093del	GRCh37
NC_000010.9:g.61137070_61137099del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000395348.8:c.-37+2174_-37+2203del MANE Select	ENSP00000378757.3:n.-37+2174_-37+2203del
ENST00000395347.1:c.-36-22978_-36-22949del	ENSP00000378756.1:n.-36-22978_-36-22949del
ENST00000395348.7:c.-37+2174_-37+2203del	ENSP00000378757.3:n.-37+2174_-37+2203del
ENST00000490066.1:n.222+1301_222+1330del
NM_194298.2:c.-37+2174_-37+2203del	NP_919274.1:n.-37+2174_-37+2203del
NM_001323977.1:c.-168+2707_-168+2736del	NP_001310906.1:n.-168+2707_-168+2736del
NM_001323978.1:c.-250-117_-250-88del	NP_001310907.1:n.-250-117_-250-88del
NM_001323979.1:c.-168+2404_-168+2433del	NP_001310908.1:n.-168+2404_-168+2433del
NM_001323980.1:c.-168+2174_-168+2203del	NP_001310909.1:n.-168+2174_-168+2203del
NM_001323981.1:c.-119-117_-119-88del	NP_001310910.1:n.-119-117_-119-88del
XM_017015883.1:c.-37+2174_-37+2203del	XP_016871372.1:n.-37+2174_-37+2203del
XM_017015884.2:c.-182+2174_-182+2203del	XP_016871373.1:n.-182+2174_-182+2203del
NM_001323978.2:c.-250-117_-250-88del	NP_001310907.1:n.-250-117_-250-88del
NM_001323979.2:c.-168+2404_-168+2433del	NP_001310908.1:n.-168+2404_-168+2433del
NM_001323980.2:c.-168+2174_-168+2203del	NP_001310909.1:n.-168+2174_-168+2203del
NM_001323981.2:c.-119-117_-119-88del	NP_001310910.1:n.-119-117_-119-88del
NM_194298.3:c.-37+2174_-37+2203del MANE Select	NP_919274.1:n.-37+2174_-37+2203del