Canonical Allele Identifier: CA602577843

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1565692060
• gnomAD v2: 11-118900057-T-TA
• gnomAD v4: 11-119029347-T-TA
• MyVariant Identifiers: chr11:g.118900057_118900058insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029348dup , CM000673.2:g.119029348dup	GRCh38
NC_000011.9:g.118900058dup , CM000673.1:g.118900058dup	GRCh37
NC_000011.8:g.118405268dup	NCBI36
NG_013331.1:g.6559dup , LRG_187:g.6559dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.251dup
ENST00000697846.1:n.251dup
ENST00000697847.1:n.251dup
ENST00000697848.1:n.251dup
ENST00000697849.1:n.495dup
ENST00000697850.1:n.251dup
ENST00000697851.1:n.495dup
ENST00000638186.1:n.325dup
ENST00000638360.1:n.259dup
ENST00000638925.1:n.258dup
ENST00000650539.1:n.427dup
ENST00000330775.9:c.22dup	ENSP00000476242.2:p.Tyr8LeufsTer?
ENST00000357590.9:c.22dup	ENSP00000476176.2:p.Tyr8LeufsTer?
ENST00000524428.5:n.22dup
ENST00000525039.5:n.445dup
ENST00000525102.5:n.779dup
ENST00000525372.5:n.22dup
ENST00000525787.1:n.317dup
ENST00000526626.6:n.217dup
ENST00000527992.5:n.249dup
ENST00000529510.5:n.40dup
ENST00000530407.5:n.197+44dup
ENST00000532085.1:n.1516dup
ENST00000532888.6:n.217dup
ENST00000534384.1:n.242dup
ENST00000538950.5:c.-172+44dup	ENSP00000475991.2:n.-172+44dup
ENST00000545985.5:c.22dup	ENSP00000475241.2:p.Tyr8LeufsTer?
NM_001164277.1:c.22dup , LRG_187t1:c.22dup	NP_001157749.1:p.Tyr8LeufsTer?
NM_001164278.1:c.22dup	NP_001157750.1:p.Tyr8LeufsTer?
NM_001164279.1:c.-172+44dup	NP_001157751.1:n.-172+44dup
NM_001164280.1:c.22dup	NP_001157752.1:p.Tyr8LeufsTer?
NM_001467.5:c.22dup	NP_001458.1:p.Tyr8LeufsTer?
NM_001164278.2:c.22dup	NP_001157750.1:p.Tyr8LeufsTer?
NM_001164279.2:c.-172+44dup	NP_001157751.1:n.-172+44dup
NM_001164280.2:c.22dup	NP_001157752.1:p.Tyr8LeufsTer?
NM_001467.6:c.22dup	NP_001458.1:p.Tyr8LeufsTer?
NM_001164277.2:c.22dup MANE Select	NP_001157749.1:p.Tyr8LeufsTer?