Canonical Allele Identifier: CA2616339785

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119025553-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025557_119025559del , CM000673.2:g.119025557_119025559del	GRCh38
NC_000011.9:g.118896267_118896269del , CM000673.1:g.118896267_118896269del	GRCh37
NC_000011.8:g.118401477_118401479del	NCBI36
NG_013331.1:g.10350_10352del , LRG_187:g.10350_10352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1194+136_1194+138del
ENST00000697845.1:n.2183+136_2183+138del
ENST00000697846.1:n.1330_1332del
ENST00000697847.1:n.1267+136_1267+138del
ENST00000697848.1:n.1416_1418del
ENST00000697849.1:n.3434_3436del
ENST00000697850.1:n.1625_1627del
ENST00000697851.1:n.2823-227_2823-225del
ENST00000638186.1:n.1289-227_1289-225del
ENST00000638360.1:n.1121-227_1121-225del
ENST00000638925.1:n.1254-227_1254-225del
ENST00000650539.1:n.1456+136_1456+138del
ENST00000330775.9:c.985-227_985-225del	ENSP00000476242.2:n.985-227_985-225del
ENST00000357590.9:c.1050+136_1050+138del	ENSP00000476176.2:n.1050+136_1050+138del
ENST00000524428.5:n.1221-227_1221-225del
ENST00000525039.5:n.1474+136_1474+138del
ENST00000525102.5:n.1743-227_1743-225del
ENST00000525372.5:n.1083-227_1083-225del
ENST00000526275.5:n.1767-227_1767-225del
ENST00000527992.5:n.1213-227_1213-225del
ENST00000529510.5:n.673-227_673-225del
ENST00000530407.5:n.1135-227_1135-225del
ENST00000532085.1:n.4776_4778del
ENST00000538950.5:c.766-227_766-225del	ENSP00000475991.2:n.766-227_766-225del
ENST00000545985.5:c.985-227_985-225del	ENSP00000475241.2:n.985-227_985-225del
NM_001164277.1:c.985-227_985-225del , LRG_187t1:c.985-227_985-225del	NP_001157749.1:n.985-227_985-225del
NM_001164278.1:c.1050+136_1050+138del	NP_001157750.1:n.1050+136_1050+138del
NM_001164279.1:c.766-227_766-225del	NP_001157751.1:n.766-227_766-225del
NM_001164280.1:c.985-227_985-225del	NP_001157752.1:n.985-227_985-225del
NM_001467.5:c.985-227_985-225del	NP_001458.1:n.985-227_985-225del
NM_001164278.2:c.1050+136_1050+138del	NP_001157750.1:n.1050+136_1050+138del
NM_001164279.2:c.766-227_766-225del	NP_001157751.1:n.766-227_766-225del
NM_001164280.2:c.985-227_985-225del	NP_001157752.1:n.985-227_985-225del
NM_001467.6:c.985-227_985-225del	NP_001458.1:n.985-227_985-225del
NM_001164277.2:c.985-227_985-225del MANE Select	NP_001157749.1:n.985-227_985-225del