Canonical Allele Identifier: CA2975984662
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029273dup , CM000673.2:g.119029273dup GRCh38
NC_000011.9:g.118899983dup , CM000673.1:g.118899983dup GRCh37
NC_000011.8:g.118405193dup NCBI36
NG_013331.1:g.6636dup , LRG_187:g.6636dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.328dup
ENST00000697846.1:n.328dup
ENST00000697847.1:n.328dup
ENST00000697848.1:n.328dup
ENST00000697849.1:n.572dup
ENST00000697850.1:n.328dup
ENST00000697851.1:n.572dup
ENST00000638186.1:n.402dup
ENST00000638360.1:n.336dup
ENST00000638925.1:n.335dup
ENST00000650539.1:n.504dup
ENST00000330775.9:c.99dup ENSP00000476242.2:p.Val34CysfsTer15
ENST00000357590.9:c.99dup ENSP00000476176.2:p.Val34CysfsTer15
ENST00000524428.5:n.99dup
ENST00000525039.5:n.522dup
ENST00000525102.5:n.856dup
ENST00000525372.5:n.99dup
ENST00000525787.1:n.394dup
ENST00000526626.6:n.294dup
ENST00000527992.5:n.326dup
ENST00000529510.5:n.117dup
ENST00000530407.5:n.197+121dup
ENST00000532085.1:n.1593dup
ENST00000532888.6:n.294dup
ENST00000534384.1:n.319dup
ENST00000538950.5:c.-172+121dup ENSP00000475991.2:n.-172+121dup
ENST00000545985.5:c.99dup ENSP00000475241.2:p.Val34CysfsTer15
NM_001164277.1:c.99dup , LRG_187t1:c.99dup NP_001157749.1:p.Val34CysfsTer15
NM_001164278.1:c.99dup NP_001157750.1:p.Val34CysfsTer15
NM_001164279.1:c.-172+121dup NP_001157751.1:n.-172+121dup
NM_001164280.1:c.99dup NP_001157752.1:p.Val34CysfsTer15
NM_001467.5:c.99dup NP_001458.1:p.Val34CysfsTer15
NM_001164278.2:c.99dup NP_001157750.1:p.Val34CysfsTer15
NM_001164279.2:c.-172+121dup NP_001157751.1:n.-172+121dup
NM_001164280.2:c.99dup NP_001157752.1:p.Val34CysfsTer15
NM_001467.6:c.99dup NP_001458.1:p.Val34CysfsTer15
NM_001164277.2:c.99dup MANE Select NP_001157749.1:p.Val34CysfsTer15