Canonical Allele Identifier: CA593948092

Gene: SLC16A9

Linked Data

• gnomAD v2: 10-61467075-GGGAAGGGAA-G
• gnomAD v3: 10-59707317-GGGAAGGGAA-G
• gnomAD v4: 10-59707317-GGGAAGGGAA-G
• MyVariant Identifiers: chr10:g.61467076_61467084del (hg19) ; chr10:g.59707318_59707326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.59707320_59707328del , CM000672.2:g.59707320_59707328del	GRCh38
NC_000010.10:g.61467078_61467086del , CM000672.1:g.61467078_61467086del	GRCh37
NC_000010.9:g.61137084_61137092del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395348.8:c.-37+2153_-37+2161del MANE Select	ENSP00000378757.3:n.-37+2153_-37+2161del
ENST00000395347.1:c.-36-22999_-36-22991del	ENSP00000378756.1:n.-36-22999_-36-22991del
ENST00000395348.7:c.-37+2153_-37+2161del	ENSP00000378757.3:n.-37+2153_-37+2161del
ENST00000490066.1:n.222+1280_222+1288del
NM_194298.2:c.-37+2153_-37+2161del	NP_919274.1:n.-37+2153_-37+2161del
NM_001323977.1:c.-168+2686_-168+2694del	NP_001310906.1:n.-168+2686_-168+2694del
NM_001323978.1:c.-250-138_-250-130del	NP_001310907.1:n.-250-138_-250-130del
NM_001323979.1:c.-168+2383_-168+2391del	NP_001310908.1:n.-168+2383_-168+2391del
NM_001323980.1:c.-168+2153_-168+2161del	NP_001310909.1:n.-168+2153_-168+2161del
NM_001323981.1:c.-119-138_-119-130del	NP_001310910.1:n.-119-138_-119-130del
XM_017015883.1:c.-37+2153_-37+2161del	XP_016871372.1:n.-37+2153_-37+2161del
XM_017015884.2:c.-182+2153_-182+2161del	XP_016871373.1:n.-182+2153_-182+2161del
NM_001323978.2:c.-250-138_-250-130del	NP_001310907.1:n.-250-138_-250-130del
NM_001323979.2:c.-168+2383_-168+2391del	NP_001310908.1:n.-168+2383_-168+2391del
NM_001323980.2:c.-168+2153_-168+2161del	NP_001310909.1:n.-168+2153_-168+2161del
NM_001323981.2:c.-119-138_-119-130del	NP_001310910.1:n.-119-138_-119-130del
NM_194298.3:c.-37+2153_-37+2161del MANE Select	NP_919274.1:n.-37+2153_-37+2161del