Canonical Allele Identifier: CA2616340652

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119029272-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029275_119029277del , CM000673.2:g.119029275_119029277del	GRCh38
NC_000011.9:g.118899985_118899987del , CM000673.1:g.118899985_118899987del	GRCh37
NC_000011.8:g.118405195_118405197del	NCBI36
NG_013331.1:g.6632_6634del , LRG_187:g.6632_6634del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.324_326del
ENST00000697846.1:n.324_326del
ENST00000697847.1:n.324_326del
ENST00000697848.1:n.324_326del
ENST00000697849.1:n.568_570del
ENST00000697850.1:n.324_326del
ENST00000697851.1:n.568_570del
ENST00000638186.1:n.398_400del
ENST00000638360.1:n.332_334del
ENST00000638925.1:n.331_333del
ENST00000650539.1:n.500_502del
ENST00000330775.9:c.95_97del	ENSP00000476242.2:p.Ser32del
ENST00000357590.9:c.95_97del	ENSP00000476176.2:p.Ser32del
ENST00000524428.5:n.95_97del
ENST00000525039.5:n.518_520del
ENST00000525102.5:n.852_854del
ENST00000525372.5:n.95_97del
ENST00000525787.1:n.390_392del
ENST00000526626.6:n.290_292del
ENST00000527992.5:n.322_324del
ENST00000529510.5:n.113_115del
ENST00000530407.5:n.197+117_197+119del
ENST00000532085.1:n.1589_1591del
ENST00000532888.6:n.290_292del
ENST00000534384.1:n.315_317del
ENST00000538950.5:c.-172+117_-172+119del	ENSP00000475991.2:n.-172+117_-172+119del
ENST00000545985.5:c.95_97del	ENSP00000475241.2:p.Ser32del
NM_001164277.1:c.95_97del , LRG_187t1:c.95_97del	NP_001157749.1:p.Ser32del
NM_001164278.1:c.95_97del	NP_001157750.1:p.Ser32del
NM_001164279.1:c.-172+117_-172+119del	NP_001157751.1:n.-172+117_-172+119del
NM_001164280.1:c.95_97del	NP_001157752.1:p.Ser32del
NM_001467.5:c.95_97del	NP_001458.1:p.Ser32del
NM_001164278.2:c.95_97del	NP_001157750.1:p.Ser32del
NM_001164279.2:c.-172+117_-172+119del	NP_001157751.1:n.-172+117_-172+119del
NM_001164280.2:c.95_97del	NP_001157752.1:p.Ser32del
NM_001467.6:c.95_97del	NP_001458.1:p.Ser32del
NM_001164277.2:c.95_97del MANE Select	NP_001157749.1:p.Ser32del