Canonical Allele Identifier: CA2690288696

Gene: TMC1

Linked Data

• gnomAD v4: 9-72805546-TAAATTTATTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805547_72805557del , CM000671.2:g.72805547_72805557del	GRCh38
NC_000009.11:g.75420463_75420473del , CM000671.1:g.75420463_75420473del	GRCh37
NC_000009.10:g.74610283_74610293del	NCBI36
NG_008213.1:g.288747_288757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+37_1695+47del MANE Select	ENSP00000297784.6:n.1695+37_1695+47del
ENST00000644967.1:c.1257+37_1257+47del	ENSP00000496159.1:n.1257+37_1257+47del
ENST00000645053.1:c.1257+37_1257+47del	ENSP00000493838.1:n.1257+37_1257+47del
ENST00000645208.2:c.1695+37_1695+47del	ENSP00000494684.1:n.1695+37_1695+47del
ENST00000645773.1:c.1569+37_1569+47del	ENSP00000493698.1:n.1569+37_1569+47del
ENST00000645787.1:n.1838+37_1838+47del
ENST00000646619.1:c.1257+37_1257+47del	ENSP00000493726.1:n.1257+37_1257+47del
ENST00000651183.1:c.1257+37_1257+47del	ENSP00000498723.1:n.1257+37_1257+47del
ENST00000297784.9:c.1695+37_1695+47del	ENSP00000297784.5:n.1695+37_1695+47del
ENST00000340019.4:c.1695+37_1695+47del	ENSP00000341433.3:n.1695+37_1695+47del
ENST00000486417.5:n.319+37_319+47del
NM_138691.2:c.1695+37_1695+47del	NP_619636.2:n.1695+37_1695+47del
XM_011518213.1:c.2283+37_2283+47del	XP_011516515.1:n.2283+37_2283+47del
XM_017014256.1:c.1698+37_1698+47del	XP_016869745.1:n.1698+37_1698+47del
NM_138691.3:c.1695+37_1695+47del MANE Select	NP_619636.2:n.1695+37_1695+47del