Canonical Allele Identifier: CA2003748741

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1943550113
• gnomAD v3: 11-119025854-CTG-C
• gnomAD v4: 11-119025854-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025855_119025856del , CM000673.2:g.119025855_119025856del	GRCh38
NC_000011.9:g.118896565_118896566del , CM000673.1:g.118896565_118896566del	GRCh37
NC_000011.8:g.118401775_118401776del	NCBI36
NG_013331.1:g.10050_10051del , LRG_187:g.10050_10051del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1129-99_1129-98del
ENST00000697845.1:n.2019_2020del
ENST00000697846.1:n.1129-99_1129-98del
ENST00000697847.1:n.1202-99_1202-98del
ENST00000697848.1:n.1215-99_1215-98del
ENST00000697849.1:n.3134_3135del
ENST00000697850.1:n.1325_1326del
ENST00000697851.1:n.2822+111_2822+112del
ENST00000638186.1:n.1288+111_1288+112del
ENST00000638360.1:n.1120+111_1120+112del
ENST00000638925.1:n.1253+111_1253+112del
ENST00000650539.1:n.1391-99_1391-98del
ENST00000330775.9:c.984+111_984+112del	ENSP00000476242.2:n.984+111_984+112del
ENST00000357590.9:c.985-99_985-98del	ENSP00000476176.2:n.985-99_985-98del
ENST00000524428.5:n.1220+111_1220+112del
ENST00000525039.5:n.1409-99_1409-98del
ENST00000525102.5:n.1742+111_1742+112del
ENST00000525372.5:n.1082+111_1082+112del
ENST00000526275.5:n.1766+111_1766+112del
ENST00000527992.5:n.1212+111_1212+112del
ENST00000529510.5:n.672+111_672+112del
ENST00000530407.5:n.1134+111_1134+112del
ENST00000532085.1:n.4476_4477del
ENST00000538950.5:c.765+111_765+112del	ENSP00000475991.2:n.765+111_765+112del
ENST00000545985.5:c.984+111_984+112del	ENSP00000475241.2:n.984+111_984+112del
NM_001164277.1:c.984+111_984+112del , LRG_187t1:c.984+111_984+112del	NP_001157749.1:n.984+111_984+112del
NM_001164278.1:c.985-99_985-98del	NP_001157750.1:n.985-99_985-98del
NM_001164279.1:c.765+111_765+112del	NP_001157751.1:n.765+111_765+112del
NM_001164280.1:c.984+111_984+112del	NP_001157752.1:n.984+111_984+112del
NM_001467.5:c.984+111_984+112del	NP_001458.1:n.984+111_984+112del
NM_001164278.2:c.985-99_985-98del	NP_001157750.1:n.985-99_985-98del
NM_001164279.2:c.765+111_765+112del	NP_001157751.1:n.765+111_765+112del
NM_001164280.2:c.984+111_984+112del	NP_001157752.1:n.984+111_984+112del
NM_001467.6:c.984+111_984+112del	NP_001458.1:n.984+111_984+112del
NM_001164277.2:c.984+111_984+112del MANE Select	NP_001157749.1:n.984+111_984+112del