Canonical Allele Identifier: CA2691415179

Gene: ASTN2 TRIM32

Linked Data

• gnomAD v4: 9-116698258-T-TTTAAGCTAGATTATAGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116698258_116698259insTTAAGCTAGATTATAGGAA , CM000671.2:g.116698258_116698259insTTAAGCTAGATTATAGGAA	GRCh38
NC_000009.11:g.119460537_119460538insTTAAGCTAGATTATAGGAA , CM000671.1:g.119460537_119460538insTTAAGCTAGATTATAGGAA	GRCh37
NC_000009.10:g.118500358_118500359insTTAAGCTAGATTATAGGAA	NCBI36
NG_011619.1:g.15957_15958insTTAAGCTAGATTATAGGAA , LRG_211:g.15957_15958insTTAAGCTAGATTATAGGAA
NG_021409.1:g.721780_721781insTTCCTATAATCTAGCTTAA
NG_021409.2:g.721799_721800insTTCCTATAATCTAGCTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313400.9:c.2806+27512_2806+27513insTTCCTATAATCTAGCTTAA (ASTN2) MANE Select	ENSP00000314038.4:n.2806+27512_2806+27513insTTCCTATAATCTAGCTT...
ENST00000361477.8:c.2653+27512_2653+27513insTTCCTATAATCTAGCTTAA (ASTN2)	ENSP00000355116.5:n.2653+27512_2653+27513insTTCCTATAATCTAGCTT...
ENST00000450136.2:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32) MANE Select	ENSP00000408292.1:p.Val173LeufsTer3
ENST00000313400.8:c.2806+27512_2806+27513insTTCCTATAATCTAGCTTAA (ASTN2)	ENSP00000314038.4:n.2806+27512_2806+27513insTTCCTATAATCTAGCTT...
ENST00000361209.6:c.2653+27512_2653+27513insTTCCTATAATCTAGCTTAA (ASTN2)	ENSP00000354504.2:n.2653+27512_2653+27513insTTCCTATAATCTAGCTT...
ENST00000361477.7:c.-39+27512_-39+27513insTTCCTATAATCTAGCTTAA (ASTN2)	ENSP00000355116.4:n.-39+27512_-39+27513insTTCCTATAATCTAGCTTAA...
ENST00000373983.2:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	ENSP00000363095.1:p.Val173LeufsTer3
ENST00000373986.7:c.1975+27512_1975+27513insTTCCTATAATCTAGCTTAA (ASTN2)	ENSP00000363098.3:n.1975+27512_1975+27513insTTCCTATAATCTAGCTT...
ENST00000411410.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)
ENST00000450136.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	ENSP00000408292.1:p.Val173LeufsTer3
NM_001099679.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	NP_001093149.1:p.Val173LeufsTer3
NM_012210.3:c.516_517insTTAAGCTAGATTATAGGAA , LRG_211t1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	NP_036342.2:p.Val173LeufsTer3
NM_014010.4:c.2653+27512_2653+27513insTTCCTATAATCTAGCTTAA (ASTN2)	NP_054729.3:n.2653+27512_2653+27513insTTCCTATAATCTAGCTTAA
XM_005251813.2:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	XP_005251870.1:p.Val173LeufsTer3
XM_011518396.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	XP_011516698.1:p.Val173LeufsTer3
XM_011518397.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	XP_011516699.1:p.Val173LeufsTer3
XM_011518398.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	XP_011516700.1:p.Val173LeufsTer3
NM_001365068.1:c.2806+27512_2806+27513insTTCCTATAATCTAGCTTAA (ASTN2) MANE Select	NP_001351997.1:n.2806+27512_2806+27513insTTCCTATAATCTAGCTTAA
NM_001365069.1:c.2794+27512_2794+27513insTTCCTATAATCTAGCTTAA (ASTN2)	NP_001351998.1:n.2794+27512_2794+27513insTTCCTATAATCTAGCTTAA
XM_005251813.4:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	XP_005251870.1:p.Val173LeufsTer3
XM_011518398.2:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	XP_011516700.1:p.Val173LeufsTer3
XM_017014486.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	XP_016869975.1:p.Val173LeufsTer3
NM_001099679.2:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	NP_001093149.1:p.Val173LeufsTer3
NM_014010.5:c.2653+27512_2653+27513insTTCCTATAATCTAGCTTAA (ASTN2)	NP_054729.3:n.2653+27512_2653+27513insTTCCTATAATCTAGCTTAA
NM_001379048.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	NP_001365977.1:p.Val173LeufsTer3
NM_001379049.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	NP_001365978.1:p.Val173LeufsTer3
NM_001379050.1:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32)	NP_001365979.1:p.Val173LeufsTer3
NM_012210.4:c.516_517insTTAAGCTAGATTATAGGAA (TRIM32) MANE Select	NP_036342.2:p.Val173LeufsTer3