Canonical Allele Identifier: CA2616340654

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119029326-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029330_119029332del , CM000673.2:g.119029330_119029332del	GRCh38
NC_000011.9:g.118900040_118900042del , CM000673.1:g.118900040_118900042del	GRCh37
NC_000011.8:g.118405250_118405252del	NCBI36
NG_013331.1:g.6578_6580del , LRG_187:g.6578_6580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.270_272del
ENST00000697846.1:n.270_272del
ENST00000697847.1:n.270_272del
ENST00000697848.1:n.270_272del
ENST00000697849.1:n.514_516del
ENST00000697850.1:n.270_272del
ENST00000697851.1:n.514_516del
ENST00000638186.1:n.344_346del
ENST00000638360.1:n.278_280del
ENST00000638925.1:n.277_279del
ENST00000650539.1:n.446_448del
ENST00000330775.9:c.41_43del	ENSP00000476242.2:p.Phe14del
ENST00000357590.9:c.41_43del	ENSP00000476176.2:p.Phe14del
ENST00000524428.5:n.41_43del
ENST00000525039.5:n.464_466del
ENST00000525102.5:n.798_800del
ENST00000525372.5:n.41_43del
ENST00000525787.1:n.336_338del
ENST00000526626.6:n.236_238del
ENST00000527992.5:n.268_270del
ENST00000529510.5:n.59_61del
ENST00000530407.5:n.197+63_197+65del
ENST00000532085.1:n.1535_1537del
ENST00000532888.6:n.236_238del
ENST00000534384.1:n.261_263del
ENST00000538950.5:c.-172+63_-172+65del	ENSP00000475991.2:n.-172+63_-172+65del
ENST00000545985.5:c.41_43del	ENSP00000475241.2:p.Phe14del
NM_001164277.1:c.41_43del , LRG_187t1:c.41_43del	NP_001157749.1:p.Phe14del
NM_001164278.1:c.41_43del	NP_001157750.1:p.Phe14del
NM_001164279.1:c.-172+63_-172+65del	NP_001157751.1:n.-172+63_-172+65del
NM_001164280.1:c.41_43del	NP_001157752.1:p.Phe14del
NM_001467.5:c.41_43del	NP_001458.1:p.Phe14del
NM_001164278.2:c.41_43del	NP_001157750.1:p.Phe14del
NM_001164279.2:c.-172+63_-172+65del	NP_001157751.1:n.-172+63_-172+65del
NM_001164280.2:c.41_43del	NP_001157752.1:p.Phe14del
NM_001467.6:c.41_43del	NP_001458.1:p.Phe14del
NM_001164277.2:c.41_43del MANE Select	NP_001157749.1:p.Phe14del