Canonical Allele Identifier: CA93181757

Gene: LDB2

Linked Data

• dbSNP Id: rs5856392
• gnomAD v2: 4-16893939-C-CTGAA
• gnomAD v3: 4-16892316-C-CTGAA
• gnomAD v4: 4-16892316-C-CTGAA
• MyVariant Identifiers: chr4:g.16893939_16893940insTGAA (hg19) ; chr4:g.16892316_16892317insTGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.16892317_16892320dup , CM000666.2:g.16892317_16892320dup	GRCh38
NC_000004.11:g.16893940_16893943dup , CM000666.1:g.16893940_16893943dup	GRCh37
NC_000004.10:g.16503038_16503041dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000304523.10:c.132+6034_132+6037dup MANE Select	ENSP00000306772.5:n.132+6034_132+6037dup
ENST00000304523.9:c.132+6034_132+6037dup	ENSP00000306772.5:n.132+6034_132+6037dup
ENST00000441778.6:c.132+6034_132+6037dup	ENSP00000392089.2:n.132+6034_132+6037dup
ENST00000502640.5:c.132+6034_132+6037dup	ENSP00000423963.1:n.132+6034_132+6037dup
ENST00000504189.1:n.54+751_54+754dup
ENST00000506732.1:c.60+6034_60+6037dup	ENSP00000421767.1:n.60+6034_60+6037dup
ENST00000508918.5:c.132+6034_132+6037dup	ENSP00000424770.1:n.132+6034_132+6037dup
ENST00000510825.5:n.325+6034_325+6037dup
ENST00000512345.5:c.132+6034_132+6037dup	ENSP00000424676.1:n.132+6034_132+6037dup
ENST00000515064.5:c.132+6034_132+6037dup	ENSP00000422552.1:n.132+6034_132+6037dup
NM_001130834.2:c.132+6034_132+6037dup	NP_001124306.1:n.132+6034_132+6037dup
NM_001290.4:c.132+6034_132+6037dup	NP_001281.1:n.132+6034_132+6037dup
NM_001304434.1:c.132+6034_132+6037dup	NP_001291363.1:n.132+6034_132+6037dup
NM_001304435.1:c.132+6034_132+6037dup	NP_001291364.1:n.132+6034_132+6037dup
NR_130734.1:n.485+751_485+754dup
XM_005248197.2:c.132+6034_132+6037dup	XP_005248254.1:n.132+6034_132+6037dup
XM_005248201.2:c.132+6034_132+6037dup	XP_005248258.1:n.132+6034_132+6037dup
XM_005248202.2:c.132+6034_132+6037dup	XP_005248259.1:n.132+6034_132+6037dup
XM_006713975.2:c.161+751_161+754dup	XP_006714038.1:n.161+751_161+754dup
XM_006713976.2:c.161+751_161+754dup	XP_006714039.1:n.161+751_161+754dup
XM_006713977.2:c.161+751_161+754dup	XP_006714040.1:n.161+751_161+754dup
XM_006713978.2:c.161+751_161+754dup	XP_006714041.1:n.161+751_161+754dup
XM_006713979.2:c.161+751_161+754dup	XP_006714042.1:n.161+751_161+754dup
XM_006713980.2:c.161+751_161+754dup	XP_006714043.1:n.161+751_161+754dup
XM_006713981.2:c.161+751_161+754dup	XP_006714044.1:n.161+751_161+754dup
XM_006713982.2:c.161+751_161+754dup	XP_006714045.1:n.161+751_161+754dup
XM_006713983.2:c.161+751_161+754dup	XP_006714046.1:n.161+751_161+754dup
XM_011513905.1:c.-146+6034_-146+6037dup	XP_011512207.1:n.-146+6034_-146+6037dup
XM_005248197.4:c.132+6034_132+6037dup	XP_005248254.1:n.132+6034_132+6037dup
XM_005248201.3:c.132+6034_132+6037dup	XP_005248258.1:n.132+6034_132+6037dup
XM_005248202.3:c.132+6034_132+6037dup	XP_005248259.1:n.132+6034_132+6037dup
XM_006713975.4:c.161+751_161+754dup	XP_006714038.1:n.161+751_161+754dup
XM_006713976.4:c.161+751_161+754dup	XP_006714039.1:n.161+751_161+754dup
XM_006713977.4:c.161+751_161+754dup	XP_006714040.1:n.161+751_161+754dup
XM_006713978.4:c.161+751_161+754dup	XP_006714041.1:n.161+751_161+754dup
XM_006713979.4:c.161+751_161+754dup	XP_006714042.1:n.161+751_161+754dup
XM_006713980.4:c.161+751_161+754dup	XP_006714043.1:n.161+751_161+754dup
XM_006713981.4:c.161+751_161+754dup	XP_006714044.1:n.161+751_161+754dup
XM_006713982.4:c.161+751_161+754dup	XP_006714045.1:n.161+751_161+754dup
XM_006713983.4:c.161+751_161+754dup	XP_006714046.1:n.161+751_161+754dup
XM_011513905.2:c.-146+6034_-146+6037dup	XP_011512207.1:n.-146+6034_-146+6037dup
XM_017008812.2:c.161+751_161+754dup	XP_016864301.1:n.161+751_161+754dup
XM_017008813.2:c.132+6034_132+6037dup	XP_016864302.1:n.132+6034_132+6037dup
XM_017008814.2:c.161+751_161+754dup	XP_016864303.1:n.161+751_161+754dup
XM_017008815.2:c.161+751_161+754dup	XP_016864304.1:n.161+751_161+754dup
XM_017008816.2:c.161+751_161+754dup	XP_016864305.1:n.161+751_161+754dup
XM_017008817.2:c.132+6034_132+6037dup	XP_016864306.1:n.132+6034_132+6037dup
XM_017008819.2:c.132+6034_132+6037dup	XP_016864308.1:n.132+6034_132+6037dup
XM_017008820.2:c.132+6034_132+6037dup	XP_016864309.1:n.132+6034_132+6037dup
XM_017008821.2:c.132+6034_132+6037dup	XP_016864310.1:n.132+6034_132+6037dup
XM_017008822.1:c.-325-3562_-325-3559dup	XP_016864311.1:n.-325-3562_-325-3559dup
XM_024454278.1:c.132+6034_132+6037dup	XP_024310046.1:n.132+6034_132+6037dup
XM_024454279.1:c.-425+6034_-425+6037dup	XP_024310047.1:n.-425+6034_-425+6037dup
NM_001290.5:c.132+6034_132+6037dup MANE Select	NP_001281.1:n.132+6034_132+6037dup
NM_001130834.3:c.132+6034_132+6037dup	NP_001124306.1:n.132+6034_132+6037dup
NM_001304434.2:c.132+6034_132+6037dup	NP_001291363.1:n.132+6034_132+6037dup
NR_130734.2:n.321+751_321+754dup
NM_001304435.2:c.132+6034_132+6037dup	NP_001291364.1:n.132+6034_132+6037dup