Canonical Allele Identifier: CA918979896

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1565687034
• gnomAD v3: 11-119025778-AAAG-A
• gnomAD v4: 11-119025778-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025781_119025783del , CM000673.2:g.119025781_119025783del	GRCh38
NC_000011.9:g.118896491_118896493del , CM000673.1:g.118896491_118896493del	GRCh37
NC_000011.8:g.118401701_118401703del	NCBI36
NG_013331.1:g.10125_10127del , LRG_187:g.10125_10127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1129-24_1129-22del
ENST00000697845.1:n.2094_2096del
ENST00000697846.1:n.1129-24_1129-22del
ENST00000697847.1:n.1202-24_1202-22del
ENST00000697848.1:n.1215-24_1215-22del
ENST00000697849.1:n.3209_3211del
ENST00000697850.1:n.1400_1402del
ENST00000697851.1:n.2822+186_2822+188del
ENST00000638186.1:n.1288+186_1288+188del
ENST00000638360.1:n.1120+186_1120+188del
ENST00000638925.1:n.1253+186_1253+188del
ENST00000650539.1:n.1391-24_1391-22del
ENST00000330775.9:c.984+186_984+188del	ENSP00000476242.2:n.984+186_984+188del
ENST00000357590.9:c.985-24_985-22del	ENSP00000476176.2:n.985-24_985-22del
ENST00000524428.5:n.1220+186_1220+188del
ENST00000525039.5:n.1409-24_1409-22del
ENST00000525102.5:n.1742+186_1742+188del
ENST00000525372.5:n.1082+186_1082+188del
ENST00000526275.5:n.1766+186_1766+188del
ENST00000527992.5:n.1212+186_1212+188del
ENST00000529510.5:n.672+186_672+188del
ENST00000530407.5:n.1134+186_1134+188del
ENST00000532085.1:n.4551_4553del
ENST00000538950.5:c.765+186_765+188del	ENSP00000475991.2:n.765+186_765+188del
ENST00000545985.5:c.984+186_984+188del	ENSP00000475241.2:n.984+186_984+188del
NM_001164277.1:c.984+186_984+188del , LRG_187t1:c.984+186_984+188del	NP_001157749.1:n.984+186_984+188del
NM_001164278.1:c.985-24_985-22del	NP_001157750.1:n.985-24_985-22del
NM_001164279.1:c.765+186_765+188del	NP_001157751.1:n.765+186_765+188del
NM_001164280.1:c.984+186_984+188del	NP_001157752.1:n.984+186_984+188del
NM_001467.5:c.984+186_984+188del	NP_001458.1:n.984+186_984+188del
NM_001164278.2:c.985-24_985-22del	NP_001157750.1:n.985-24_985-22del
NM_001164279.2:c.765+186_765+188del	NP_001157751.1:n.765+186_765+188del
NM_001164280.2:c.984+186_984+188del	NP_001157752.1:n.984+186_984+188del
NM_001467.6:c.984+186_984+188del	NP_001458.1:n.984+186_984+188del
NM_001164277.2:c.984+186_984+188del MANE Select	NP_001157749.1:n.984+186_984+188del