Canonical Allele Identifier: CA6311698

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 552708
• ClinVar RCV Id: RCV000668018
• dbSNP Id: rs782321213
• ExAC: 11:118896798 T / TACAGTCC
• gnomAD v2: 11-118896798-T-TACAGTCC
• gnomAD v4: 11-119026088-T-TACAGTCC
• MyVariant Identifiers: chr11:g.118896798_118896799insACAGTCC (hg19) ; chr11:g.119026089_119026095dup (hg38) ; chr11:g.119026088_119026089insACAGTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026089_119026095dup , CM000673.2:g.119026089_119026095dup	GRCh38
NC_000011.9:g.118896799_118896805dup , CM000673.1:g.118896799_118896805dup	GRCh37
NC_000011.8:g.118402009_118402015dup	NCBI36
NG_013331.1:g.9811_9817dup , LRG_187:g.9811_9817dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1015-15_1015-9dup
ENST00000697845.1:n.1780_1786dup
ENST00000697846.1:n.1015-15_1015-9dup
ENST00000697847.1:n.1202-338_1202-332dup
ENST00000697848.1:n.1101-15_1101-9dup
ENST00000697849.1:n.2895_2901dup
ENST00000697850.1:n.1101-15_1101-9dup
ENST00000697851.1:n.2709-15_2709-9dup
ENST00000638186.1:n.1175-15_1175-9dup
ENST00000638360.1:n.1007-15_1007-9dup
ENST00000638925.1:n.1140-15_1140-9dup
ENST00000650539.1:n.1277-15_1277-9dup
ENST00000330775.9:c.871-15_871-9dup	ENSP00000476242.2:n.871-15_871-9dup
ENST00000357590.9:c.871-15_871-9dup	ENSP00000476176.2:n.871-15_871-9dup
ENST00000524428.5:n.1107-15_1107-9dup
ENST00000525039.5:n.1295-15_1295-9dup
ENST00000525102.5:n.1629-15_1629-9dup
ENST00000525372.5:n.969-15_969-9dup
ENST00000526275.5:n.1653-15_1653-9dup
ENST00000527992.5:n.1099-15_1099-9dup
ENST00000529510.5:n.559-15_559-9dup
ENST00000530407.5:n.1021-15_1021-9dup
ENST00000532085.1:n.4237_4243dup
ENST00000538950.5:c.652-15_652-9dup	ENSP00000475991.2:n.652-15_652-9dup
ENST00000545985.5:c.871-15_871-9dup	ENSP00000475241.2:n.871-15_871-9dup
NM_001164277.1:c.871-15_871-9dup , LRG_187t1:c.871-15_871-9dup	NP_001157749.1:n.871-15_871-9dup
NM_001164278.1:c.871-15_871-9dup	NP_001157750.1:n.871-15_871-9dup
NM_001164279.1:c.652-15_652-9dup	NP_001157751.1:n.652-15_652-9dup
NM_001164280.1:c.871-15_871-9dup	NP_001157752.1:n.871-15_871-9dup
NM_001467.5:c.871-15_871-9dup	NP_001458.1:n.871-15_871-9dup
NM_001164278.2:c.871-15_871-9dup	NP_001157750.1:n.871-15_871-9dup
NM_001164279.2:c.652-15_652-9dup	NP_001157751.1:n.652-15_652-9dup
NM_001164280.2:c.871-15_871-9dup	NP_001157752.1:n.871-15_871-9dup
NM_001467.6:c.871-15_871-9dup	NP_001458.1:n.871-15_871-9dup
NM_001164277.2:c.871-15_871-9dup MANE Select	NP_001157749.1:n.871-15_871-9dup