Canonical Allele Identifier: CA5082022

Gene: TMC1

Linked Data

• dbSNP Id: rs765663526
• ExAC: 9:75420448 C / CA
• gnomAD v4: 9-72805532-C-CA
• MyVariant Identifiers: chr9:g.75420448_75420449insA (hg19) ; chr9:g.75420449_75420451delinsATTT (hg19) ; chr9:g.72805532_72805533insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805532_72805533insA , CM000671.2:g.72805532_72805533insA	GRCh38
NC_000009.11:g.75420448_75420449insA , CM000671.1:g.75420448_75420449insA	GRCh37
NC_000009.10:g.74610268_74610269insA	NCBI36
NG_008213.1:g.288732_288733insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+22_1695+23insA MANE Select	ENSP00000297784.6:n.1695+22_1695+23insA
ENST00000644967.1:c.1257+22_1257+23insA	ENSP00000496159.1:n.1257+22_1257+23insA
ENST00000645053.1:c.1257+22_1257+23insA	ENSP00000493838.1:n.1257+22_1257+23insA
ENST00000645208.2:c.1695+22_1695+23insA	ENSP00000494684.1:n.1695+22_1695+23insA
ENST00000645773.1:c.1569+22_1569+23insA	ENSP00000493698.1:n.1569+22_1569+23insA
ENST00000645787.1:n.1838+22_1838+23insA
ENST00000646619.1:c.1257+22_1257+23insA	ENSP00000493726.1:n.1257+22_1257+23insA
ENST00000651183.1:c.1257+22_1257+23insA	ENSP00000498723.1:n.1257+22_1257+23insA
ENST00000297784.9:c.1695+22_1695+23insA	ENSP00000297784.5:n.1695+22_1695+23insA
ENST00000340019.4:c.1695+22_1695+23insA	ENSP00000341433.3:n.1695+22_1695+23insA
ENST00000486417.5:n.319+22_319+23insA
NM_138691.2:c.1695+22_1695+23insA	NP_619636.2:n.1695+22_1695+23insA
XM_011518213.1:c.2283+22_2283+23insA	XP_011516515.1:n.2283+22_2283+23insA
XM_017014256.1:c.1698+22_1698+23insA	XP_016869745.1:n.1698+22_1698+23insA
NM_138691.3:c.1695+22_1695+23insA MANE Select	NP_619636.2:n.1695+22_1695+23insA