Canonical Allele Identifier: CA672375946

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1245154497
• gnomAD v3: 11-119025813-CAG-C
• gnomAD v4: 11-119025813-CAG-C
• MyVariant Identifiers: chr11:g.118896524_118896525del (hg19) ; chr11:g.119025814_119025815del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025815_119025816del , CM000673.2:g.119025815_119025816del	GRCh38
NC_000011.9:g.118896525_118896526del , CM000673.1:g.118896525_118896526del	GRCh37
NC_000011.8:g.118401735_118401736del	NCBI36
NG_013331.1:g.10091_10092del , LRG_187:g.10091_10092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1129-58_1129-57del
ENST00000697845.1:n.2060_2061del
ENST00000697846.1:n.1129-58_1129-57del
ENST00000697847.1:n.1202-58_1202-57del
ENST00000697848.1:n.1215-58_1215-57del
ENST00000697849.1:n.3175_3176del
ENST00000697850.1:n.1366_1367del
ENST00000697851.1:n.2822+152_2822+153del
ENST00000638186.1:n.1288+152_1288+153del
ENST00000638360.1:n.1120+152_1120+153del
ENST00000638925.1:n.1253+152_1253+153del
ENST00000650539.1:n.1391-58_1391-57del
ENST00000330775.9:c.984+152_984+153del	ENSP00000476242.2:n.984+152_984+153del
ENST00000357590.9:c.985-58_985-57del	ENSP00000476176.2:n.985-58_985-57del
ENST00000524428.5:n.1220+152_1220+153del
ENST00000525039.5:n.1409-58_1409-57del
ENST00000525102.5:n.1742+152_1742+153del
ENST00000525372.5:n.1082+152_1082+153del
ENST00000526275.5:n.1766+152_1766+153del
ENST00000527992.5:n.1212+152_1212+153del
ENST00000529510.5:n.672+152_672+153del
ENST00000530407.5:n.1134+152_1134+153del
ENST00000532085.1:n.4517_4518del
ENST00000538950.5:c.765+152_765+153del	ENSP00000475991.2:n.765+152_765+153del
ENST00000545985.5:c.984+152_984+153del	ENSP00000475241.2:n.984+152_984+153del
NM_001164277.1:c.984+152_984+153del , LRG_187t1:c.984+152_984+153del	NP_001157749.1:n.984+152_984+153del
NM_001164278.1:c.985-58_985-57del	NP_001157750.1:n.985-58_985-57del
NM_001164279.1:c.765+152_765+153del	NP_001157751.1:n.765+152_765+153del
NM_001164280.1:c.984+152_984+153del	NP_001157752.1:n.984+152_984+153del
NM_001467.5:c.984+152_984+153del	NP_001458.1:n.984+152_984+153del
NM_001164278.2:c.985-58_985-57del	NP_001157750.1:n.985-58_985-57del
NM_001164279.2:c.765+152_765+153del	NP_001157751.1:n.765+152_765+153del
NM_001164280.2:c.984+152_984+153del	NP_001157752.1:n.984+152_984+153del
NM_001467.6:c.984+152_984+153del	NP_001458.1:n.984+152_984+153del
NM_001164277.2:c.984+152_984+153del MANE Select	NP_001157749.1:n.984+152_984+153del