Canonical Allele Identifier: CA2690288657

Gene: TMC1

Linked Data

• gnomAD v4: 9-72805505-G-GGATATGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805506_72805513dup , CM000671.2:g.72805506_72805513dup	GRCh38
NC_000009.11:g.75420422_75420429dup , CM000671.1:g.75420422_75420429dup	GRCh37
NC_000009.10:g.74610242_74610249dup	NCBI36
NG_008213.1:g.288706_288713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1691_1695+3dup
ENST00000644967.1:c.1253_1257+3dup
ENST00000645053.1:c.1253_1257+3dup
ENST00000645208.2:c.1691_1695+3dup
ENST00000645773.1:c.1565_1569+3dup
ENST00000645787.1:n.1834_1838+3dup
ENST00000646619.1:c.1253_1257+3dup
ENST00000651183.1:c.1253_1257+3dup
ENST00000297784.9:c.1691_1695+3dup
ENST00000340019.4:c.1691_1695+3dup
ENST00000486417.5:n.315_319+3dup
NM_138691.2:c.1691_1695+3dup
XM_011518213.1:c.2279_2283+3dup
XM_017014256.1:c.1694_1698+3dup
NM_138691.3:c.1691_1695+3dup