Canonical Allele Identifier: CA187838037

Gene: TSNARE1

Linked Data

• dbSNP Id: rs967272777
• gnomAD v2: 8-143312649-TAA-T
• gnomAD v3: 8-142231288-TAA-T
• gnomAD v4: 8-142231288-TAA-T
• MyVariant Identifiers: chr8:g.143312650_143312651del (hg19) ; chr8:g.142231289_142231290del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142231290_142231291del , CM000670.2:g.142231290_142231291del	GRCh38
NC_000008.10:g.143312651_143312652del , CM000670.1:g.143312651_143312652del	GRCh37
NC_000008.9:g.143310558_143310559del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524325.6:c.1447-1711_1447-1710del MANE Select	ENSP00000428763.2:n.1447-1711_1447-1710del
ENST00000307180.4:c.1450-1711_1450-1710del	ENSP00000303437.4:n.1450-1711_1450-1710del
ENST00000520166.5:c.1450-1711_1450-1710del	ENSP00000427770.2:n.1450-1711_1450-1710del
ENST00000524325.5:c.1447-1711_1447-1710del	ENSP00000428763.2:n.1447-1711_1447-1710del
NM_145003.4:c.1447-1711_1447-1710del	NP_659440.2:n.1447-1711_1447-1710del
NM_001363740.2:c.1450-1711_1450-1710del	NP_001350669.1:n.1450-1711_1450-1710del
NM_001366901.1:c.1444-1711_1444-1710del	NP_001353830.1:n.1444-1711_1444-1710del
XM_017013176.1:c.1915-1711_1915-1710del	XP_016868665.1:n.1915-1711_1915-1710del
NM_145003.5:c.1447-1711_1447-1710del MANE Select	NP_659440.2:n.1447-1711_1447-1710del