Canonical Allele Identifier: CA8764176

Gene: TSEN54

Linked Data

• dbSNP Id: rs770465987
• ExAC: 17:73517400 T / TAGGA
• gnomAD v2: 17-73517400-T-TAGGA
• gnomAD v3: 17-75521319-T-TAGGA
• gnomAD v4: 17-75521319-T-TAGGA
• MyVariant Identifiers: chr17:g.73517400_73517401insAGGA (hg19) ; chr17:g.75521319_75521320insAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521319_75521320insAGGA , CM000679.2:g.75521319_75521320insAGGA	GRCh38
NC_000017.10:g.73517400_73517401insAGGA , CM000679.1:g.73517400_73517401insAGGA	GRCh37
NC_000017.9:g.71028995_71028996insAGGA	NCBI36
NG_013041.1:g.9792_9793insAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.522-90_522-89insAGGA MANE Select	ENSP00000327487.6:n.522-90_522-89insAGGA
ENST00000434205.8:c.219-90_219-89insAGGA	ENSP00000406559.4:n.219-90_219-89insAGGA
ENST00000545228.3:c.522-90_522-89insAGGA	ENSP00000438169.3:n.522-90_522-89insAGGA
ENST00000579449.2:n.321-90_321-89insAGGA
ENST00000580013.6:n.531-90_531-89insAGGA
ENST00000583818.2:c.522-36_522-35insAGGA	ENSP00000461928.2:n.522-36_522-35insAGGA
ENST00000679370.1:n.909-90_909-89insAGGA
ENST00000679429.1:c.514-90_514-89insAGGA	ENSP00000505403.1:n.514-90_514-89insAGGA
ENST00000679443.1:n.397-90_397-89insAGGA
ENST00000679782.1:c.522-90_522-89insAGGA	ENSP00000505995.1:n.522-90_522-89insAGGA
ENST00000679919.1:n.397-90_397-89insAGGA
ENST00000679928.1:c.*133-90_*133-89insAGGA	ENSP00000506071.1:n.*133-90_*133-89insAGGA
ENST00000680528.1:n.547-90_547-89insAGGA
ENST00000680999.1:c.522-90_522-89insAGGA	ENSP00000504984.1:n.522-90_522-89insAGGA
ENST00000681282.1:c.522-90_522-89insAGGA	ENSP00000506339.1:n.522-90_522-89insAGGA
ENST00000333213.10:c.522-90_522-89insAGGA	ENSP00000327487.6:n.522-90_522-89insAGGA
ENST00000578415.1:c.482-90_482-89insAGGA
ENST00000580013.5:n.539-90_539-89insAGGA
ENST00000583173.5:c.357-90_357-89insAGGA	ENSP00000463619.1:n.357-90_357-89insAGGA
ENST00000583818.1:c.417-36_417-35insAGGA	ENSP00000461928.1:n.417-36_417-35insAGGA
NM_207346.2:c.522-90_522-89insAGGA	NP_997229.2:n.522-90_522-89insAGGA
XM_005257229.2:c.522-90_522-89insAGGA	XP_005257286.1:n.522-90_522-89insAGGA
XM_006721821.2:c.219-90_219-89insAGGA	XP_006721884.1:n.219-90_219-89insAGGA
XM_011524616.1:c.522-90_522-89insAGGA	XP_011522918.1:n.522-90_522-89insAGGA
XM_011524617.1:c.522-90_522-89insAGGA	XP_011522919.1:n.522-90_522-89insAGGA
XM_011524618.1:c.522-90_522-89insAGGA	XP_011522920.1:n.522-90_522-89insAGGA
XR_243646.2:n.552-90_552-89insAGGA
XM_005257229.4:c.522-90_522-89insAGGA	XP_005257286.1:n.522-90_522-89insAGGA
XR_243646.4:n.558-90_558-89insAGGA
NM_207346.3:c.522-90_522-89insAGGA MANE Select	NP_997229.2:n.522-90_522-89insAGGA