Canonical Allele Identifier: CA7521129

Gene: TGM5

Linked Data

• ClinVar Variation Id: 420028
• ClinVar RCV Id: RCV000478405
• dbSNP Id: rs748610718
• ExAC: 15:43533046 TCA / T
• gnomAD v2: 15-43533046-TCA-T
• gnomAD v3: 15-43240848-TCA-T
• gnomAD v4: 15-43240848-TCA-T
• MyVariant Identifiers: chr15:g.43533047_43533048del (hg19) ; chr15:g.43240849_43240850del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43240850_43240851del , CM000677.2:g.43240850_43240851del	GRCh38
NC_000015.9:g.43533048_43533049del , CM000677.1:g.43533048_43533049del	GRCh37
NC_000015.8:g.41320340_41320341del	NCBI36
NG_016124.1:g.31008_31009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.1001+2_1001+3del MANE Select	ENSP00000220420.5:n.1001+2_1001+3del
ENST00000635871.1:n.470+2_470+3del
ENST00000220420.9:c.1001+2_1001+3del	ENSP00000220420.5:n.1001+2_1001+3del
ENST00000349114.8:c.755+2_755+3del	ENSP00000220419.8:n.755+2_755+3del
ENST00000563838.1:n.234+167_234+168del
ENST00000610827.4:c.998+2_998+3del	ENSP00000479732.1:n.998+2_998+3del
ENST00000611276.4:c.752+2_752+3del	ENSP00000482542.1:n.752+2_752+3del
ENST00000622115.1:c.1004+2_1004+3del	ENSP00000479638.1:n.1004+2_1004+3del
NM_004245.3:c.755+2_755+3del	NP_004236.1:n.755+2_755+3del
NM_201631.3:c.1001+2_1001+3del	NP_963925.2:n.1001+2_1001+3del
XM_011522229.1:c.1001+2_1001+3del	XP_011520531.1:n.1001+2_1001+3del
XM_011522230.1:c.-29+167_-29+168del	XP_011520532.1:n.-29+167_-29+168del
XR_931948.1:n.1175+2_1175+3del
XM_011522230.2:c.-29+167_-29+168del	XP_011520532.1:n.-29+167_-29+168del
NM_004245.4:c.755+2_755+3del	NP_004236.1:n.755+2_755+3del
NM_201631.4:c.1001+2_1001+3del MANE Select	NP_963925.2:n.1001+2_1001+3del