Canonical Allele Identifier: CA10215438

Gene: TMPRSS6

Linked Data

• ClinVar Variation Id: 262724
• ClinVar RCV Id: RCV000243619 ; RCV000341283 ; RCV002058426
• dbSNP Id: rs60484081
• ExAC: 22:37465385 CTGGGG / C
• gnomAD v2: 22-37465385-CTGGGG-C
• gnomAD v3: 22-37069345-CTGGGG-C
• gnomAD v4: 22-37069345-CTGGGG-C
• COSMIC: COSM1484216 ; COSM4770668
• MyVariant Identifiers: chr22:g.37465401_37465405del (hg19) ; chr22:g.37465391_37465395del (hg19) ; chr22:g.37465386_37465390del (hg19) ; chr22:g.37069351_37069355del (hg38) ; chr22:g.37069347_37069351del (hg38) ; chr22:g.37069346_37069350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37069373_37069377del , CM000684.2:g.37069373_37069377del	GRCh38
NC_000022.10:g.37465413_37465417del , CM000684.1:g.37465413_37465417del	GRCh37
NC_000022.9:g.35795359_35795363del	NCBI36
NG_012856.2:g.45214_45218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346753.9:c.1842-6_1842-2del	ENSP00000334962.6:n.1842-6_1842-2del
ENST00000406725.6:c.1842-6_1842-2del	ENSP00000385453.1:n.1842-6_1842-2del
ENST00000406856.7:c.1842-6_1842-2del	ENSP00000384964.1:n.1842-6_1842-2del
ENST00000676104.1:c.1842-6_1842-2del MANE Select	ENSP00000501573.1:n.1842-6_1842-2del
ENST00000346753.7:c.1869-6_1869-2del	ENSP00000334962.5:n.1869-6_1869-2del
ENST00000381792.6:c.1842-6_1842-2del	ENSP00000371211.2:n.1842-6_1842-2del
ENST00000406725.5:c.1842-6_1842-2del	ENSP00000385453.1:n.1842-6_1842-2del
ENST00000406856.5:c.1842-6_1842-2del	ENSP00000384964.1:n.1842-6_1842-2del
NM_001289000.1:c.1842-6_1842-2del	NP_001275929.1:n.1842-6_1842-2del
NM_001289001.1:c.1842-6_1842-2del	NP_001275930.1:n.1842-6_1842-2del
NM_153609.3:c.1869-6_1869-2del	NP_705837.1:n.1869-6_1869-2del
XM_006724162.1:c.1842-6_1842-2del	XP_006724225.1:n.1842-6_1842-2del
XM_006724163.2:c.1842-6_1842-2del	XP_006724226.1:n.1842-6_1842-2del
XM_011529987.1:c.1842-6_1842-2del	XP_011528289.1:n.1842-6_1842-2del
XM_011529988.1:c.1842-6_1842-2del	XP_011528290.1:n.1842-6_1842-2del
XM_011529989.1:c.1410-6_1410-2del	XP_011528291.1:n.1410-6_1410-2del
XM_011529989.2:c.1410-6_1410-2del	XP_011528291.1:n.1410-6_1410-2del
XM_024452167.1:c.1842-6_1842-2del	XP_024307935.1:n.1842-6_1842-2del
XM_024452168.1:c.1842-6_1842-2del	XP_024307936.1:n.1842-6_1842-2del
XM_024452169.1:c.1842-6_1842-2del	XP_024307937.1:n.1842-6_1842-2del
XM_024452170.1:c.1842-6_1842-2del	XP_024307938.1:n.1842-6_1842-2del
XM_024452171.1:c.1842-6_1842-2del	XP_024307939.1:n.1842-6_1842-2del
NM_001289000.2:c.1842-6_1842-2del	NP_001275929.1:n.1842-6_1842-2del
NM_001289001.2:c.1842-6_1842-2del	NP_001275930.1:n.1842-6_1842-2del
NM_001374504.1:c.1842-6_1842-2del MANE Select	NP_001361433.1:n.1842-6_1842-2del
NM_153609.4:c.1842-6_1842-2del	NP_705837.2:n.1842-6_1842-2del