Canonical Allele Identifier: CA5082030

Gene: TMC1

Linked Data

• dbSNP Id: rs755691007
• ExAC: 9:75420464 AATTT / A
• gnomAD v2: 9-75420464-AATTT-A
• gnomAD v3: 9-72805548-AATTT-A
• gnomAD v4: 9-72805548-AATTT-A
• MyVariant Identifiers: chr9:g.75420465_75420468del (hg19) ; chr9:g.72805550_72805553del (hg38) ; chr9:g.72805549_72805552del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805557_72805560del , CM000671.2:g.72805557_72805560del	GRCh38
NC_000009.11:g.75420473_75420476del , CM000671.1:g.75420473_75420476del	GRCh37
NC_000009.10:g.74610293_74610296del	NCBI36
NG_008213.1:g.288757_288760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+47_1695+50del MANE Select	ENSP00000297784.6:n.1695+47_1695+50del
ENST00000644967.1:c.1257+47_1257+50del	ENSP00000496159.1:n.1257+47_1257+50del
ENST00000645053.1:c.1257+47_1257+50del	ENSP00000493838.1:n.1257+47_1257+50del
ENST00000645208.2:c.1695+47_1695+50del	ENSP00000494684.1:n.1695+47_1695+50del
ENST00000645773.1:c.1569+47_1569+50del	ENSP00000493698.1:n.1569+47_1569+50del
ENST00000645787.1:n.1838+47_1838+50del
ENST00000646619.1:c.1257+47_1257+50del	ENSP00000493726.1:n.1257+47_1257+50del
ENST00000651183.1:c.1257+47_1257+50del	ENSP00000498723.1:n.1257+47_1257+50del
ENST00000297784.9:c.1695+47_1695+50del	ENSP00000297784.5:n.1695+47_1695+50del
ENST00000340019.4:c.1695+47_1695+50del	ENSP00000341433.3:n.1695+47_1695+50del
ENST00000486417.5:n.319+47_319+50del
NM_138691.2:c.1695+47_1695+50del	NP_619636.2:n.1695+47_1695+50del
XM_011518213.1:c.2283+47_2283+50del	XP_011516515.1:n.2283+47_2283+50del
XM_017014256.1:c.1698+47_1698+50del	XP_016869745.1:n.1698+47_1698+50del
NM_138691.3:c.1695+47_1695+50del MANE Select	NP_619636.2:n.1695+47_1695+50del