Canonical Allele Identifier: CA2616339989

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119026074-G-GTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026075_119026078dup , CM000673.2:g.119026075_119026078dup	GRCh38
NC_000011.9:g.118896785_118896788dup , CM000673.1:g.118896785_118896788dup	GRCh37
NC_000011.8:g.118401995_118401998dup	NCBI36
NG_013331.1:g.9828_9831dup , LRG_187:g.9828_9831dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1017_1020dup
ENST00000697845.1:n.1797_1800dup
ENST00000697846.1:n.1017_1020dup
ENST00000697847.1:n.1202-321_1202-318dup
ENST00000697848.1:n.1103_1106dup
ENST00000697849.1:n.2912_2915dup
ENST00000697850.1:n.1103_1106dup
ENST00000697851.1:n.2711_2714dup
ENST00000638186.1:n.1177_1180dup
ENST00000638360.1:n.1009_1012dup
ENST00000638925.1:n.1142_1145dup
ENST00000650539.1:n.1279_1282dup
ENST00000330775.9:c.873_876dup	ENSP00000476242.2:p.Leu293GlyfsTer?
ENST00000357590.9:c.873_876dup	ENSP00000476176.2:p.Leu293GlyfsTer?
ENST00000524428.5:n.1109_1112dup
ENST00000525039.5:n.1297_1300dup
ENST00000525102.5:n.1631_1634dup
ENST00000525372.5:n.971_974dup
ENST00000526275.5:n.1655_1658dup
ENST00000527992.5:n.1101_1104dup
ENST00000529510.5:n.561_564dup
ENST00000530407.5:n.1023_1026dup
ENST00000532085.1:n.4254_4257dup
ENST00000538950.5:c.654_657dup	ENSP00000475991.2:p.Leu220GlyfsTer?
ENST00000545985.5:c.873_876dup	ENSP00000475241.2:p.Leu293GlyfsTer?
NM_001164277.1:c.873_876dup , LRG_187t1:c.873_876dup	NP_001157749.1:p.Leu293GlyfsTer?
NM_001164278.1:c.873_876dup	NP_001157750.1:p.Leu293GlyfsTer?
NM_001164279.1:c.654_657dup	NP_001157751.1:p.Leu220GlyfsTer?
NM_001164280.1:c.873_876dup	NP_001157752.1:p.Leu293GlyfsTer?
NM_001467.5:c.873_876dup	NP_001458.1:p.Leu293GlyfsTer?
NM_001164278.2:c.873_876dup	NP_001157750.1:p.Leu293GlyfsTer?
NM_001164279.2:c.654_657dup	NP_001157751.1:p.Leu220GlyfsTer?
NM_001164280.2:c.873_876dup	NP_001157752.1:p.Leu293GlyfsTer?
NM_001467.6:c.873_876dup	NP_001458.1:p.Leu293GlyfsTer?
NM_001164277.2:c.873_876dup MANE Select	NP_001157749.1:p.Leu293GlyfsTer?