Canonical Allele Identifier: CA6311662

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 554574
• ClinVar RCV Id: RCV000670235
• dbSNP Id: rs782397393
• ExAC: 11:118896436 G / GTA
• gnomAD v2: 11-118896436-G-GTA
• gnomAD v3: 11-119025726-G-GTA
• gnomAD v4: 11-119025726-G-GTA
• MyVariant Identifiers: chr11:g.118896436_118896437insTA (hg19) ; chr11:g.119025726_119025727insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025726_119025727insTA , CM000673.2:g.119025726_119025727insTA	GRCh38
NC_000011.9:g.118896436_118896437insTA , CM000673.1:g.118896436_118896437insTA	GRCh37
NC_000011.8:g.118401646_118401647insTA	NCBI36
NG_013331.1:g.10179_10180insTA , LRG_187:g.10179_10180insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1159_1160insTA
ENST00000697845.1:n.2148_2149insTA
ENST00000697846.1:n.1159_1160insTA
ENST00000697847.1:n.1232_1233insTA
ENST00000697848.1:n.1245_1246insTA
ENST00000697849.1:n.3263_3264insTA
ENST00000697850.1:n.1454_1455insTA
ENST00000697851.1:n.2822+240_2822+241insTA
ENST00000638186.1:n.1288+240_1288+241insTA
ENST00000638360.1:n.1120+240_1120+241insTA
ENST00000638925.1:n.1253+240_1253+241insTA
ENST00000650539.1:n.1421_1422insTA
ENST00000330775.9:c.984+240_984+241insTA	ENSP00000476242.2:n.984+240_984+241insTA
ENST00000357590.9:c.1015_1016insTA	ENSP00000476176.2:p.Pro339LeufsTer?
ENST00000524428.5:n.1220+240_1220+241insTA
ENST00000525039.5:n.1439_1440insTA
ENST00000525102.5:n.1742+240_1742+241insTA
ENST00000525372.5:n.1082+240_1082+241insTA
ENST00000526275.5:n.1766+240_1766+241insTA
ENST00000527992.5:n.1212+240_1212+241insTA
ENST00000529510.5:n.672+240_672+241insTA
ENST00000530407.5:n.1134+240_1134+241insTA
ENST00000532085.1:n.4605_4606insTA
ENST00000538950.5:c.765+240_765+241insTA	ENSP00000475991.2:n.765+240_765+241insTA
ENST00000545985.5:c.984+240_984+241insTA	ENSP00000475241.2:n.984+240_984+241insTA
NM_001164277.1:c.984+240_984+241insTA , LRG_187t1:c.984+240_984+241insTA	NP_001157749.1:n.984+240_984+241insTA
NM_001164278.1:c.1015_1016insTA	NP_001157750.1:p.Pro339LeufsTer?
NM_001164279.1:c.765+240_765+241insTA	NP_001157751.1:n.765+240_765+241insTA
NM_001164280.1:c.984+240_984+241insTA	NP_001157752.1:n.984+240_984+241insTA
NM_001467.5:c.984+240_984+241insTA	NP_001458.1:n.984+240_984+241insTA
NM_001164278.2:c.1015_1016insTA	NP_001157750.1:p.Pro339LeufsTer?
NM_001164279.2:c.765+240_765+241insTA	NP_001157751.1:n.765+240_765+241insTA
NM_001164280.2:c.984+240_984+241insTA	NP_001157752.1:n.984+240_984+241insTA
NM_001467.6:c.984+240_984+241insTA	NP_001458.1:n.984+240_984+241insTA
NM_001164277.2:c.984+240_984+241insTA MANE Select	NP_001157749.1:n.984+240_984+241insTA