Canonical Allele Identifier: CA2690288762

Gene: TMC1

Linked Data

• gnomAD v4: 9-72805631-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805632_72805633del , CM000671.2:g.72805632_72805633del	GRCh38
NC_000009.11:g.75420548_75420549del , CM000671.1:g.75420548_75420549del	GRCh37
NC_000009.10:g.74610368_74610369del	NCBI36
NG_008213.1:g.288832_288833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+122_1695+123del MANE Select	ENSP00000297784.6:n.1695+122_1695+123del
ENST00000644967.1:c.1257+122_1257+123del	ENSP00000496159.1:n.1257+122_1257+123del
ENST00000645053.1:c.1257+122_1257+123del	ENSP00000493838.1:n.1257+122_1257+123del
ENST00000645208.2:c.1695+122_1695+123del	ENSP00000494684.1:n.1695+122_1695+123del
ENST00000645773.1:c.1569+122_1569+123del	ENSP00000493698.1:n.1569+122_1569+123del
ENST00000645787.1:n.1838+122_1838+123del
ENST00000646619.1:c.1257+122_1257+123del	ENSP00000493726.1:n.1257+122_1257+123del
ENST00000651183.1:c.1257+122_1257+123del	ENSP00000498723.1:n.1257+122_1257+123del
ENST00000297784.9:c.1695+122_1695+123del	ENSP00000297784.5:n.1695+122_1695+123del
ENST00000340019.4:c.1695+122_1695+123del	ENSP00000341433.3:n.1695+122_1695+123del
ENST00000486417.5:n.319+122_319+123del
NM_138691.2:c.1695+122_1695+123del	NP_619636.2:n.1695+122_1695+123del
XM_011518213.1:c.2283+122_2283+123del	XP_011516515.1:n.2283+122_2283+123del
XM_017014256.1:c.1698+122_1698+123del	XP_016869745.1:n.1698+122_1698+123del
NM_138691.3:c.1695+122_1695+123del MANE Select	NP_619636.2:n.1695+122_1695+123del