Canonical Allele Identifier: CA2030819411
Gene: SLC2A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.39947199_39947200delinsCA , CM000674.2:g.39947199_39947200delinsCA GRCh38
NC_000012.11:g.40341001_40341002delinsCA , CM000674.1:g.40341001_40341002delinsCA GRCh37
NC_000012.10:g.38627268_38627269delinsCA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000280871.9:c.1034+4057_1034+4058delinsTG MANE Select ENSP00000280871.4:n.1034+4057_1034+4058de...
ENST00000280871.8:c.1034+4057_1034+4058delinsTG ENSP00000280871.4:n.1034+4057_1034+4058de...
NM_052885.3:c.1034+4057_1034+4058delinsTG NP_443117.3:n.1034+4057_1034+4058delinsTG...
XM_011537847.1:c.1034+4057_1034+4058delinsTG XP_011536149.1:n.1034+4057_1034+4058delin...
XM_011537848.1:c.1034+4057_1034+4058delinsTG XP_011536150.1:n.1034+4057_1034+4058delin...
XM_011537849.1:c.1034+4057_1034+4058delinsTG XP_011536151.1:n.1034+4057_1034+4058delin...
XM_011537850.1:c.1034+4057_1034+4058delinsTG XP_011536152.1:n.1034+4057_1034+4058delin...
XM_011537847.2:c.1034+4057_1034+4058delinsTG XP_011536149.1:n.1034+4057_1034+4058delin...
XM_011537849.2:c.1034+4057_1034+4058delinsTG XP_011536151.1:n.1034+4057_1034+4058delin...
XM_011537850.3:c.1034+4057_1034+4058delinsTG XP_011536152.1:n.1034+4057_1034+4058delin...
XM_017018764.1:c.467+4057_467+4058delinsTG XP_016874253.1:n.467+4057_467+4058delinsT...
XM_017018765.1:c.467+4057_467+4058delinsTG XP_016874254.1:n.467+4057_467+4058delinsT...
XM_017018766.1:c.314+4057_314+4058delinsTG XP_016874255.1:n.314+4057_314+4058delinsT...
XR_001748567.2:n.1311+4057_1311+4058delinsTG
XR_001748568.1:n.1311+4057_1311+4058delinsTG
NM_052885.4:c.1034+4057_1034+4058delinsTG MANE Select NP_443117.3:n.1034+4057_1034+4058delinsTG...