Canonical Allele Identifier: CA2690288717

Gene: TMC1

Linked Data

• gnomAD v4: 9-72805560-TTTTATTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805561_72805567del , CM000671.2:g.72805561_72805567del	GRCh38
NC_000009.11:g.75420477_75420483del , CM000671.1:g.75420477_75420483del	GRCh37
NC_000009.10:g.74610297_74610303del	NCBI36
NG_008213.1:g.288761_288767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+51_1695+57del MANE Select	ENSP00000297784.6:n.1695+51_1695+57del
ENST00000644967.1:c.1257+51_1257+57del	ENSP00000496159.1:n.1257+51_1257+57del
ENST00000645053.1:c.1257+51_1257+57del	ENSP00000493838.1:n.1257+51_1257+57del
ENST00000645208.2:c.1695+51_1695+57del	ENSP00000494684.1:n.1695+51_1695+57del
ENST00000645773.1:c.1569+51_1569+57del	ENSP00000493698.1:n.1569+51_1569+57del
ENST00000645787.1:n.1838+51_1838+57del
ENST00000646619.1:c.1257+51_1257+57del	ENSP00000493726.1:n.1257+51_1257+57del
ENST00000651183.1:c.1257+51_1257+57del	ENSP00000498723.1:n.1257+51_1257+57del
ENST00000297784.9:c.1695+51_1695+57del	ENSP00000297784.5:n.1695+51_1695+57del
ENST00000340019.4:c.1695+51_1695+57del	ENSP00000341433.3:n.1695+51_1695+57del
ENST00000486417.5:n.319+51_319+57del
NM_138691.2:c.1695+51_1695+57del	NP_619636.2:n.1695+51_1695+57del
XM_011518213.1:c.2283+51_2283+57del	XP_011516515.1:n.2283+51_2283+57del
XM_017014256.1:c.1698+51_1698+57del	XP_016869745.1:n.1698+51_1698+57del
NM_138691.3:c.1695+51_1695+57del MANE Select	NP_619636.2:n.1695+51_1695+57del