Canonical Allele Identifier: CA229597641

Gene: SLC37A4

Linked Data

• dbSNP Id: rs778125806
• gnomAD v4: 11-119026469-CTCT-C
• MyVariant Identifiers: chr11:g.118897180_118897182del (hg19) ; chr11:g.119026470_119026472del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026472_119026474del , CM000673.2:g.119026472_119026474del	GRCh38
NC_000011.9:g.118897182_118897184del , CM000673.1:g.118897182_118897184del	GRCh37
NC_000011.8:g.118402392_118402394del	NCBI36
NG_013331.1:g.9434_9436del , LRG_187:g.9434_9436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1015-392_1015-390del
ENST00000697845.1:n.1403_1405del
ENST00000697846.1:n.1015-392_1015-390del
ENST00000697847.1:n.1201+30_1201+32del
ENST00000697848.1:n.1100+131_1100+133del
ENST00000697849.1:n.2518_2520del
ENST00000697850.1:n.1100+131_1100+133del
ENST00000697851.1:n.2708+131_2708+133del
ENST00000638186.1:n.1174+131_1174+133del
ENST00000638360.1:n.1006+131_1006+133del
ENST00000638925.1:n.1139+99_1139+101del
ENST00000650539.1:n.1276+131_1276+133del
ENST00000330775.9:c.870+131_870+133del	ENSP00000476242.2:n.870+131_870+133del
ENST00000357590.9:c.870+131_870+133del	ENSP00000476176.2:n.870+131_870+133del
ENST00000524428.5:n.1107-392_1107-390del
ENST00000525039.5:n.1294+131_1294+133del
ENST00000525102.5:n.1628+131_1628+133del
ENST00000525372.5:n.968+34_968+36del
ENST00000526275.5:n.1652+131_1652+133del
ENST00000527992.5:n.1098+131_1098+133del
ENST00000529510.5:n.559-392_559-390del
ENST00000530407.5:n.1020+131_1020+133del
ENST00000532085.1:n.3860_3862del
ENST00000538950.5:c.651+131_651+133del	ENSP00000475991.2:n.651+131_651+133del
ENST00000545985.5:c.870+131_870+133del	ENSP00000475241.2:n.870+131_870+133del
NM_001164277.1:c.870+131_870+133del , LRG_187t1:c.870+131_870+133del	NP_001157749.1:n.870+131_870+133del
NM_001164278.1:c.870+131_870+133del	NP_001157750.1:n.870+131_870+133del
NM_001164279.1:c.651+131_651+133del	NP_001157751.1:n.651+131_651+133del
NM_001164280.1:c.870+131_870+133del	NP_001157752.1:n.870+131_870+133del
NM_001467.5:c.870+131_870+133del	NP_001458.1:n.870+131_870+133del
NM_001164278.2:c.870+131_870+133del	NP_001157750.1:n.870+131_870+133del
NM_001164279.2:c.651+131_651+133del	NP_001157751.1:n.651+131_651+133del
NM_001164280.2:c.870+131_870+133del	NP_001157752.1:n.870+131_870+133del
NM_001467.6:c.870+131_870+133del	NP_001458.1:n.870+131_870+133del
NM_001164277.2:c.870+131_870+133del MANE Select	NP_001157749.1:n.870+131_870+133del