Canonical Allele Identifier: CA2579354301

Gene: TMC1

Linked Data

• gnomAD v4: 9-72820739-TTCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820740_72820744del , CM000671.2:g.72820740_72820744del	GRCh38
NC_000009.11:g.75435656_75435660del , CM000671.1:g.75435656_75435660del	GRCh37
NC_000009.10:g.74625476_74625480del	NCBI36
NG_008213.1:g.303940_303944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1764-102_1764-98del MANE Select	ENSP00000297784.6:n.1764-102_1764-98del
ENST00000644967.1:c.*204-102_*204-98del	ENSP00000496159.1:n.*204-102_*204-98del
ENST00000645053.1:c.1258-6129_1258-6125del	ENSP00000493838.1:n.1258-6129_1258-6125del
ENST00000645208.2:c.1764-102_1764-98del	ENSP00000494684.1:n.1764-102_1764-98del
ENST00000645773.1:c.1638-102_1638-98del	ENSP00000493698.1:n.1638-102_1638-98del
ENST00000645787.1:n.1907-102_1907-98del
ENST00000646619.1:c.1326-102_1326-98del	ENSP00000493726.1:n.1326-102_1326-98del
ENST00000651183.1:c.1326-102_1326-98del	ENSP00000498723.1:n.1326-102_1326-98del
ENST00000297784.9:c.1764-102_1764-98del	ENSP00000297784.5:n.1764-102_1764-98del
ENST00000340019.4:c.1764-102_1764-98del	ENSP00000341433.3:n.1764-102_1764-98del
ENST00000469455.1:n.245-102_245-98del
ENST00000486417.5:n.662-102_662-98del
NM_138691.2:c.1764-102_1764-98del	NP_619636.2:n.1764-102_1764-98del
XM_011518213.1:c.2352-102_2352-98del	XP_011516515.1:n.2352-102_2352-98del
XM_017014256.1:c.1767-102_1767-98del	XP_016869745.1:n.1767-102_1767-98del
NM_138691.3:c.1764-102_1764-98del MANE Select	NP_619636.2:n.1764-102_1764-98del