Canonical Allele Identifier: CA588439393

Gene: TMC1

Linked Data

• dbSNP Id: rs1564566696
• gnomAD v2: 9-75420411-CTTGGAGTATGG-C
• gnomAD v4: 9-72805495-CTTGGAGTATGG-C
• MyVariant Identifiers: chr9:g.75420412_75420422del (hg19) ; chr9:g.72805496_72805506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805496_72805506del , CM000671.2:g.72805496_72805506del	GRCh38
NC_000009.11:g.75420412_75420422del , CM000671.1:g.75420412_75420422del	GRCh37
NC_000009.10:g.74610232_74610242del	NCBI36
NG_008213.1:g.288696_288706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1681_1691del MANE Select	ENSP00000297784.6:p.Leu561IlefsTer?
ENST00000644967.1:c.1243_1253del	ENSP00000496159.1:p.Leu415IlefsTer?
ENST00000645053.1:c.1243_1253del	ENSP00000493838.1:p.Leu415IlefsTer27
ENST00000645208.2:c.1681_1691del	ENSP00000494684.1:p.Leu561IlefsTer?
ENST00000645773.1:c.1555_1565del	ENSP00000493698.1:p.Leu519IlefsTer?
ENST00000645787.1:n.1824_1834del
ENST00000646619.1:c.1243_1253del	ENSP00000493726.1:p.Leu415IlefsTer?
ENST00000651183.1:c.1243_1253del	ENSP00000498723.1:p.Leu415IlefsTer?
ENST00000297784.9:c.1681_1691del	ENSP00000297784.5:p.Leu561IlefsTer?
ENST00000340019.4:c.1681_1691del	ENSP00000341433.3:p.Leu561IlefsTer?
ENST00000486417.5:n.305_315del
NM_138691.2:c.1681_1691del	NP_619636.2:p.Leu561IlefsTer?
XM_011518213.1:c.2269_2279del	XP_011516515.1:p.Leu757IlefsTer?
XM_017014256.1:c.1684_1694del	XP_016869745.1:p.Leu562IlefsTer?
NM_138691.3:c.1681_1691del MANE Select	NP_619636.2:p.Leu561IlefsTer?