Canonical Allele Identifier: CA749515645

Gene: TMPRSS3

Linked Data

• dbSNP Id: rs1374768734
• gnomAD v3: 21-42389331-TGGCGGGG-T
• gnomAD v4: 21-42389331-TGGCGGGG-T
• MyVariant Identifiers: chr21:g.43809441_43809447del (hg19) ; chr21:g.42389332_42389338del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42389335_42389341del , CM000683.2:g.42389335_42389341del	GRCh38
NC_000021.8:g.43809444_43809450del , CM000683.1:g.43809444_43809450del	GRCh37
NC_000021.7:g.42682513_42682519del	NCBI36
NG_011629.1:g.11754_11760del
NG_011629.2:g.11754_11760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.206-293_206-287del	ENSP00000411013.3:n.206-293_206-287del
ENST00000644384.2:c.206-293_206-287del MANE Select	ENSP00000494414.1:n.206-293_206-287del
ENST00000652415.1:c.206-293_206-287del	ENSP00000498756.1:n.206-293_206-287del
ENST00000291532.7:c.206-293_206-287del	ENSP00000291532.3:n.206-293_206-287del
ENST00000398397.3:c.206-293_206-287del	ENSP00000381434.3:n.206-293_206-287del
ENST00000398405.5:c.200-293_200-287del	ENSP00000381442.1:n.200-293_200-287del
ENST00000433957.6:c.206-293_206-287del	ENSP00000411013.2:n.206-293_206-287del
ENST00000482761.1:n.493-293_493-287del
NM_001256317.1:c.206-293_206-287del	NP_001243246.1:n.206-293_206-287del
NM_024022.2:c.206-293_206-287del	NP_076927.1:n.206-293_206-287del
NM_032405.1:c.206-293_206-287del	NP_115781.1:n.206-293_206-287del
NR_046020.1:n.1162-293_1162-287del
NM_001256317.2:c.206-293_206-287del	NP_001243246.1:n.206-293_206-287del
NM_024022.3:c.206-293_206-287del	NP_076927.1:n.206-293_206-287del
NM_032405.2:c.206-293_206-287del	NP_115781.1:n.206-293_206-287del
NM_001256317.3:c.206-293_206-287del MANE Select	NP_001243246.1:n.206-293_206-287del
NM_024022.4:c.206-293_206-287del	NP_076927.1:n.206-293_206-287del