Canonical Allele Identifier: CA2975984663

Gene: SLC37A4

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.328del
ENST00000697846.1:n.328del
ENST00000697847.1:n.328del
ENST00000697848.1:n.328del
ENST00000697849.1:n.572del
ENST00000697850.1:n.328del
ENST00000697851.1:n.572del
ENST00000638186.1:n.402del
ENST00000638360.1:n.336del
ENST00000638925.1:n.335del
ENST00000650539.1:n.504del
ENST00000330775.9:c.99del	ENSP00000476242.2:p.Phe33LeufsTer?
ENST00000357590.9:c.99del	ENSP00000476176.2:p.Phe33LeufsTer?
ENST00000524428.5:n.99del
ENST00000525039.5:n.522del
ENST00000525102.5:n.856del
ENST00000525372.5:n.99del
ENST00000525787.1:n.394del
ENST00000526626.6:n.294del
ENST00000527992.5:n.326del
ENST00000529510.5:n.117del
ENST00000530407.5:n.197+121del
ENST00000532085.1:n.1593del
ENST00000532888.6:n.294del
ENST00000534384.1:n.319del
ENST00000538950.5:c.-172+121del	ENSP00000475991.2:n.-172+121del
ENST00000545985.5:c.99del	ENSP00000475241.2:p.Phe33LeufsTer?
NM_001164277.1:c.99del , LRG_187t1:c.99del	NP_001157749.1:p.Phe33LeufsTer?
NM_001164278.1:c.99del	NP_001157750.1:p.Phe33LeufsTer?
NM_001164279.1:c.-172+121del	NP_001157751.1:n.-172+121del
NM_001164280.1:c.99del	NP_001157752.1:p.Phe33LeufsTer?
NM_001467.5:c.99del	NP_001458.1:p.Phe33LeufsTer?
NM_001164278.2:c.99del	NP_001157750.1:p.Phe33LeufsTer?
NM_001164279.2:c.-172+121del	NP_001157751.1:n.-172+121del
NM_001164280.2:c.99del	NP_001157752.1:p.Phe33LeufsTer?
NM_001467.6:c.99del	NP_001458.1:p.Phe33LeufsTer?
NM_001164277.2:c.99del MANE Select	NP_001157749.1:p.Phe33LeufsTer?