Canonical Allele Identifier: CA749538486

Gene: TMPRSS3

Linked Data

• dbSNP Id: rs1303256643
• gnomAD v3: 21-42372560-AAAAAAAC-A
• gnomAD v4: 21-42372560-AAAAAAAC-A
• MyVariant Identifiers: chr21:g.43792670_43792676del (hg19) ; chr21:g.42372561_42372567del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42372573_42372579del , CM000683.2:g.42372573_42372579del	GRCh38
NC_000021.8:g.43792682_43792688del , CM000683.1:g.43792682_43792688del	GRCh37
NC_000021.7:g.42665751_42665757del	NCBI36
NG_011629.1:g.28525_28531del
NG_011629.2:g.28525_28531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.*195_*201del	ENSP00000411013.3:n.*195_*201del
ENST00000644384.2:c.*195_*201del MANE Select	ENSP00000494414.1:n.*195_*201del
ENST00000652415.1:c.*195_*201del	ENSP00000498756.1:n.*195_*201del
ENST00000291532.7:c.*195_*201del	ENSP00000291532.3:n.*195_*201del
ENST00000398405.5:c.*195_*201del	ENSP00000381442.1:n.*195_*201del
ENST00000433957.6:c.*195_*201del	ENSP00000411013.2:n.*195_*201del
ENST00000474596.5:n.1428_1434del
ENST00000476848.5:n.2292_2298del
ENST00000482761.1:n.1847_1853del
NM_001256317.1:c.*195_*201del	NP_001243246.1:n.*195_*201del
NM_024022.2:c.*195_*201del	NP_076927.1:n.*195_*201del
NM_032404.2:c.*195_*201del	NP_115780.1:n.*195_*201del
NR_046020.1:n.2516_2522del
NM_001256317.2:c.*195_*201del	NP_001243246.1:n.*195_*201del
NM_024022.3:c.*195_*201del	NP_076927.1:n.*195_*201del
NM_001256317.3:c.*195_*201del MANE Select	NP_001243246.1:n.*195_*201del
NM_024022.4:c.*195_*201del	NP_076927.1:n.*195_*201del
NM_032404.3:c.*195_*201del	NP_115780.1:n.*195_*201del