Canonical Allele Identifier: CA593948083

Gene: SLC16A9

Linked Data

• gnomAD v2: 10-61467054-AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAAGGGAG-A
• gnomAD v3: 10-59707296-AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAAGGGAG-A
• gnomAD v4: 10-59707296-AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAAGGGAG-A
• MyVariant Identifiers: chr10:g.61467055_61467104del (hg19) ; chr10:g.59707297_59707346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.59707316_59707365del , CM000672.2:g.59707316_59707365del	GRCh38
NC_000010.10:g.61467074_61467123del , CM000672.1:g.61467074_61467123del	GRCh37
NC_000010.9:g.61137080_61137129del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000395348.8:c.-37+2133_-37+2182del MANE Select	ENSP00000378757.3:n.-37+2133_-37+2182del
ENST00000395347.1:c.-36-23019_-36-22970del	ENSP00000378756.1:n.-36-23019_-36-22970del
ENST00000395348.7:c.-37+2133_-37+2182del	ENSP00000378757.3:n.-37+2133_-37+2182del
ENST00000490066.1:n.222+1260_222+1309del
NM_194298.2:c.-37+2133_-37+2182del	NP_919274.1:n.-37+2133_-37+2182del
NM_001323977.1:c.-168+2666_-168+2715del	NP_001310906.1:n.-168+2666_-168+2715del
NM_001323978.1:c.-250-158_-250-109del	NP_001310907.1:n.-250-158_-250-109del
NM_001323979.1:c.-168+2363_-168+2412del	NP_001310908.1:n.-168+2363_-168+2412del
NM_001323980.1:c.-168+2133_-168+2182del	NP_001310909.1:n.-168+2133_-168+2182del
NM_001323981.1:c.-119-158_-119-109del	NP_001310910.1:n.-119-158_-119-109del
XM_017015883.1:c.-37+2133_-37+2182del	XP_016871372.1:n.-37+2133_-37+2182del
XM_017015884.2:c.-182+2133_-182+2182del	XP_016871373.1:n.-182+2133_-182+2182del
NM_001323978.2:c.-250-158_-250-109del	NP_001310907.1:n.-250-158_-250-109del
NM_001323979.2:c.-168+2363_-168+2412del	NP_001310908.1:n.-168+2363_-168+2412del
NM_001323980.2:c.-168+2133_-168+2182del	NP_001310909.1:n.-168+2133_-168+2182del
NM_001323981.2:c.-119-158_-119-109del	NP_001310910.1:n.-119-158_-119-109del
NM_194298.3:c.-37+2133_-37+2182del MANE Select	NP_919274.1:n.-37+2133_-37+2182del